Variant report

Variant	rs570763471
Chromosome Location	chr3:195162630-195162631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195162201..195164559-chr3:195267983..195270079,2	MCF-7	breast:
2	chr3:194990825..194992800-chr3:195162290..195164935,2	K562	blood:
3	chr3:194353939..194355661-chr3:195162594..195164351,2	MCF-7	breast:
4	chr3:195162578..195166480-chr3:195268710..195271525,3	K562	blood:
5	chr3:195139843..195142071-chr3:195162223..195164874,2	MCF-7	breast:
6	chr3:194991198..194994178-chr3:195162096..195163902,2	K562	blood:
7	chr3:194991144..194993841-chr3:195162528..195164078,2	MCF-7	breast:
8	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223711	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000207368	Chromatin interaction
ENSG00000173950	Chromatin interaction
ENSG00000145014	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	esv3445442	chr3:195162488-195165036	Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195161000-195162800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr3:195161000-195162800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:195161200-195164200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:195161200-195164200	Active TSS	GM12878-XiMat	blood
5	chr3:195161200-195164600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:195161400-195163000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr3:195161400-195163200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr3:195161400-195164200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:195161400-195164200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:195161400-195164200	Active TSS	K562	blood
11	chr3:195161600-195162800	Flanking Active TSS	HUVEC	blood vessel
12	chr3:195161600-195164200	Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:195161800-195162800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:195161800-195162800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr3:195161800-195163000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:195161800-195164200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:195161800-195164200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:195161800-195164200	Active TSS	HMEC	breast
19	chr3:195161800-195164400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:195162000-195162800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr3:195162000-195162800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:195162000-195162800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr3:195162000-195162800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:195162000-195162800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr3:195162000-195162800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:195162000-195162800	Flanking Active TSS	Fetal Thymus	thymus
27	chr3:195162000-195162800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr3:195162000-195163000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr3:195162000-195163600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:195162000-195164200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr3:195162000-195164200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:195162000-195164200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr3:195162000-195164200	Active TSS	Brain Angular Gyrus	brain
34	chr3:195162000-195164200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr3:195162000-195164200	Active TSS	HSMM	muscle
36	chr3:195162000-195164400	Active TSS	Psoas Muscle	Psoas
37	chr3:195162000-195164400	Active TSS	NHDF-Ad	bronchial
38	chr3:195162000-195164600	Active TSS	Right Atrium	heart
39	chr3:195162200-195162800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:195162200-195162800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr3:195162200-195162800	Flanking Active TSS	Liver	Liver
42	chr3:195162200-195162800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr3:195162200-195163000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:195162200-195163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:195162200-195163800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:195162200-195163800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:195162200-195163800	Active TSS	Esophagus	oesophagus
48	chr3:195162200-195163800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr3:195162200-195164000	Active TSS	Thymus	Thymus
50	chr3:195162200-195164200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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