Variant report

Variant	rs550557662
Chromosome Location	chr2:96592671-96592672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv874665	chr2:96370571-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv874666	chr2:96370571-96691125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1004482	chr2:96408987-96596717	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv428054	chr2:96438238-96627125	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv961832	chr2:96453677-96671971	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv874667	chr2:96465201-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv874668	chr2:96465201-96600569	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv834304	chr2:96493545-96667472	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv508154	chr2:96534336-96609925	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1004486	chr2:96544604-96684876	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv874669	chr2:96547820-96691125	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv818073	chr2:96554851-96683378	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
18	esv1811444	chr2:96583510-96631703	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1810451	chr2:96583710-96622087	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv1812776	chr2:96584211-96622287	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3416967	chr2:96589314-96593108	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1805585	chr2:96589999-96629291	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv21137	chr2:96591462-96623415	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv820407	chr2:96591462-96623415	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv14492	chr2:96591462-96647854	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
26	esv3391744	chr2:96592125-96609923	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
2	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
4	chr2:96543800-96596200	Weak transcription	K562	blood
5	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
7	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
9	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:96574600-96627600	Weak transcription	HSMM	muscle
14	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:96575800-96595600	Strong transcription	Dnd41	blood
16	chr2:96576000-96594800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:96576600-96596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:96576800-96596200	Weak transcription	Spleen	Spleen
19	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:96577600-96593400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:96577600-96600200	Weak transcription	A549	lung
22	chr2:96577800-96593200	Weak transcription	NHEK	skin
23	chr2:96577800-96594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:96577800-96595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:96577800-96596400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:96577800-96603400	Weak transcription	Osteobl	bone
27	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
28	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:96578000-96645000	Weak transcription	NH-A	brain
31	chr2:96579000-96596600	Weak transcription	GM12878-XiMat	blood
32	chr2:96580000-96594400	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:96580200-96594400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:96580600-96595600	Weak transcription	Fetal Brain Female	brain
35	chr2:96580800-96593200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:96581400-96617000	Weak transcription	Pancreas	Pancrea
37	chr2:96582000-96601800	Weak transcription	Small Intestine	intestine
38	chr2:96582000-96605800	Weak transcription	Fetal Intestine Small	intestine
39	chr2:96582600-96596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:96582800-96595400	Weak transcription	Primary B cells from cord blood	blood
41	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:96583800-96595200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:96584000-96624600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:96584400-96621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:96585000-96601600	Weak transcription	Gastric	stomach
46	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:96585400-96596400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:96585400-96616600	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:96585600-96615400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:96585600-96627400	Weak transcription	Left Ventricle	heart

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