Variant report

Variant	rs702017
Chromosome Location	chr3:121263720-121263721
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121262548..121264431-chr3:121401420..121403788,2	K562	blood:
2	chr3:121263260..121265570-chr3:121468289..121470216,2	K562	blood:
3	chr3:121261975..121264944-chr3:121467360..121470216,3	K562	blood:
4	chr3:121256811..121260221-chr3:121262363..121264764,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173230	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3101345	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:121202400-121263800	Weak transcription	HSMM	muscle
5	chr3:121232200-121263800	Weak transcription	Fetal Heart	heart
6	chr3:121234000-121264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:121234200-121264000	Weak transcription	Fetal Intestine Large	intestine
8	chr3:121235000-121263800	Weak transcription	Primary B cells from cord blood	blood
9	chr3:121235000-121264000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:121236600-121264000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:121236600-121264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:121237400-121264000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:121237600-121264000	Weak transcription	Fetal Lung	lung
14	chr3:121239600-121264000	Weak transcription	Fetal Stomach	stomach
15	chr3:121250000-121264000	Weak transcription	Thymus	Thymus
16	chr3:121251600-121263800	Weak transcription	Fetal Kidney	kidney
17	chr3:121252000-121264000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:121254600-121264200	Weak transcription	Fetal Brain Male	brain
19	chr3:121258200-121263800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:121260600-121263800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:121260600-121264000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:121261200-121263800	Weak transcription	Fetal Brain Female	brain
23	chr3:121261200-121264000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:121262600-121263800	Weak transcription	A549	lung
25	chr3:121263000-121263800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:121263000-121265600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:121263200-121263800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:121263200-121264400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr3:121263200-121264600	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr3:121263200-121265800	Active TSS	NHLF	lung
31	chr3:121263400-121263800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:121263400-121263800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:121263400-121263800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:121263400-121263800	Enhancers	Fetal Intestine Small	intestine
35	chr3:121263400-121263800	Flanking Active TSS	GM12878-XiMat	blood
36	chr3:121263400-121263800	Flanking Active TSS	Hela-S3	cervix
37	chr3:121263400-121263800	Flanking Active TSS	NHEK	skin
38	chr3:121263400-121265000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr3:121263400-121265000	Active TSS	HMEC	breast
40	chr3:121263400-121265800	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr3:121263400-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:121263400-121265800	Active TSS	K562	blood
43	chr3:121263600-121263800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr3:121263600-121263800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:121263600-121263800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:121263600-121263800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr3:121263600-121263800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:121263600-121263800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:121263600-121263800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:121263600-121263800	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links