Variant report

Variant	rs531220639
Chromosome Location	chr2:98155371-98155372
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv535831	chr2:97671335-98270990	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv2752937	chr2:97708611-98269110	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	esv2756939	chr2:97708611-98274527	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1003620	chr2:97713761-98162177	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1009571	chr2:97717260-98162177	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1003980	chr2:97731121-98162177	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv874686	chr2:97747434-98163508	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1007839	chr2:97751997-98161698	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013849	chr2:97751997-98162177	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv431413	chr2:97753585-98274527	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv1004229	chr2:97758953-98225437	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv1009372	chr2:97765561-98162177	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv522486	chr2:97768178-98265491	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	nsv874688	chr2:97771190-98163508	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv1004521	chr2:97772769-98162177	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv874689	chr2:97779578-98163508	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv874691	chr2:97793899-98163508	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
22	nsv874692	chr2:97802601-98163508	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv874693	chr2:97817407-98163508	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv869602	chr2:97820572-98263438	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
25	nsv874694	chr2:97826112-98163508	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv999340	chr2:97834070-98162177	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv874695	chr2:97845100-98253816	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	esv1838312	chr2:97852832-98240470	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	esv1845945	chr2:97859833-98202258	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	nsv1005903	chr2:97872625-98264679	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	nsv1006679	chr2:97886322-98162177	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv999118	chr2:97886322-98264679	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
33	nsv1011958	chr2:97886322-98269110	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
34	nsv1001249	chr2:97972600-98274527	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
35	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
36	nsv999561	chr2:98013814-98161698	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
37	nsv1008339	chr2:98013814-98162177	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
38	nsv1010905	chr2:98013814-98269110	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
39	nsv1003384	chr2:98013814-98270884	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
40	nsv1010167	chr2:98013814-98273619	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
41	nsv999627	chr2:98013814-98274527	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
42	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
43	nsv442803	chr2:98140747-98161710	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
44	esv32869	chr2:98141231-98192553	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	esv14104	chr2:98146258-98156729	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
46	nsv820699	chr2:98146258-98156729	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
47	esv3368867	chr2:98146258-98157818	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
48	esv1821050	chr2:98146258-98161710	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
49	esv1823918	chr2:98146258-98161710	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases
50	esv1833903	chr2:98146258-98161710	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
7	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:98144200-98156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:98150400-98155800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:98151600-98162200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
24	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
26	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
27	chr2:98152600-98155800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:98152800-98158400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:98153200-98157000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:98153800-98156400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:98154000-98156400	Strong transcription	Ovary	ovary
38	chr2:98154200-98162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
42	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
43	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:98154600-98162600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:98154800-98162600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
48	chr2:98155200-98155400	Strong transcription	Primary T cells from cord blood	blood
49	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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