Variant report

Variant	rs149812694
Chromosome Location	chr3:195116566-195116567
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195115819..195117385-chr3:195118245..195120989,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
4	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
5	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
7	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
8	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
9	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
10	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
12	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	nsv526569	chr3:195038287-195123495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
15	nsv878139	chr3:195058837-195158031	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv1799680	chr3:195060129-195154361	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv878141	chr3:195065255-195158031	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
19	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
20	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
21	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
22	nsv878142	chr3:195109866-195143983	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
23	nsv878143	chr3:195115229-195158031	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195041000-195131200	Weak transcription	Gastric	stomach
2	chr3:195052400-195118000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:195074800-195118000	Weak transcription	K562	blood
4	chr3:195077400-195118000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:195077800-195117800	Weak transcription	Brain Angular Gyrus	brain
6	chr3:195077800-195122800	Weak transcription	Right Ventricle	heart
7	chr3:195078000-195142200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:195078600-195118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:195087800-195131200	Weak transcription	NHDF-Ad	bronchial
10	chr3:195088600-195146800	Weak transcription	Spleen	Spleen
11	chr3:195090800-195116800	Weak transcription	Aorta	Aorta
12	chr3:195094800-195161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:195095200-195116800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:195095200-195161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:195095800-195134200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:195100600-195117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:195101800-195122200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:195102600-195118000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:195102600-195129800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:195103800-195117400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:195106000-195118000	Weak transcription	Small Intestine	intestine
22	chr3:195106600-195117600	Weak transcription	NHLF	lung
23	chr3:195106600-195118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:195106600-195137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:195106800-195117800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:195106800-195117800	Weak transcription	Brain Anterior Caudate	brain
27	chr3:195107000-195116800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:195107000-195118000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:195107000-195119400	Weak transcription	HSMM	muscle
30	chr3:195107400-195126600	Weak transcription	Esophagus	oesophagus
31	chr3:195107800-195118000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:195108800-195134000	Weak transcription	Placenta	Placenta
33	chr3:195109200-195118000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:195109400-195117800	Weak transcription	Fetal Lung	lung
35	chr3:195109400-195118000	Weak transcription	Stomach Mucosa	stomach
36	chr3:195109400-195144000	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:195109800-195131200	Weak transcription	Fetal Intestine Large	intestine
38	chr3:195111400-195121200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:195111800-195128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:195112400-195123800	Weak transcription	Left Ventricle	heart
41	chr3:195112400-195126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:195112600-195118000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:195112600-195121400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:195112600-195132400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:195112600-195138000	Weak transcription	Thymus	Thymus
46	chr3:195112600-195141400	Weak transcription	Fetal Stomach	stomach
47	chr3:195112800-195117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:195112800-195121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:195112800-195122200	Weak transcription	Primary B cells from cord blood	blood
50	chr3:195112800-195122600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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