Variant report

Variant	rs377749
Chromosome Location	chr6:31705183-31705184
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31703182-31707401	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31705158-31706302	HUVEC	blood vessel:	n/a	n/a
3	PML	chr6:31705139-31706742	GM12878	blood:	n/a	chr6:31706163-31706171 chr6:31706475-31706483
4	EP300	chr6:31705155-31708063	HepG2	liver:	n/a	chr6:31707141-31707149
5	HEY1	chr6:31700825-31708048	HepG2	liver:	n/a	n/a
6	FOXA1	chr6:31705175-31708069	HepG2	liver:	n/a	chr6:31706270-31706285
7	MBD4	chr6:31705115-31708186	HepG2	liver:	n/a	n/a
8	PML	chr6:31705162-31706795	K562	blood:	n/a	chr6:31706163-31706171 chr6:31706475-31706483
9	TEAD4	chr6:31705115-31708474	K562	blood:	n/a	n/a
10	POLR2A	chr6:31701223-31706870	HepG2	liver:	n/a	n/a
11	SP1	chr6:31705167-31708177	A549	lung:	n/a	chr6:31706876-31706885 chr6:31707734-31707744 chr6:31707734-31707743 chr6:31707730-31707744 chr6:31707735-31707744 chr6:31706098-31706107 chr6:31707733-31707745 chr6:31705835-31705848 chr6:31705486-31705496 chr6:31707580-31707594 chr6:31707609-31707618 chr6:31705486-31705495 chr6:31706875-31706885 chr6:31707733-31707745 chr6:31707628-31707649 chr6:31706755-31706769 chr6:31708099-31708109
12	MTA3	chr6:31705110-31708604	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:31705119-31708627	GM12892	blood:	n/a	n/a
14	TEAD4	chr6:31705101-31708149	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:31705161-31709134	HL-60	blood:	n/a	n/a
16	REST	chr6:31705125-31706228	HepG2	liver:	n/a	n/a
17	HEY1	chr6:31705165-31706813	HepG2	liver:	n/a	n/a
18	MYBL2	chr6:31705126-31708371	HepG2	liver:	n/a	n/a
19	FOXA2	chr6:31705050-31708151	HepG2	liver:	n/a	n/a
20	MBD4	chr6:31705158-31706862	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:31705161-31708871	HL-60	blood:	n/a	n/a
22	POLR2A	chr6:31701163-31706813	GM12892	blood:	n/a	n/a
23	POLR2A	chr6:31704090-31706565	HepG2	liver:	n/a	n/a
24	CBX3	chr6:31705134-31709133	K562	blood:	n/a	n/a
25	POLR2A	chr6:31705160-31708492	K562	blood:	n/a	n/a
26	FOXA1	chr6:31705173-31706817	HepG2	liver:	n/a	chr6:31706270-31706285
27	POLR2A	chr6:31701099-31707232	HepG2	liver:	n/a	n/a
28	MAZ	chr6:31705167-31707975	HepG2	liver:	n/a	chr6:31705423-31705432 chr6:31707734-31707744
29	HEY1	chr6:31705163-31708504	K562	blood:	n/a	n/a
30	SP1	chr6:31705047-31706176	HepG2	liver:	n/a	chr6:31706098-31706107 chr6:31705835-31705848 chr6:31705486-31705496 chr6:31705486-31705495
31	MAX	chr6:31705172-31708436	HepG2	liver:	n/a	chr6:31705423-31705432 chr6:31707734-31707744
32	POLR2A	chr6:31704030-31706652	HepG2	liver:	n/a	n/a
33	CREB1	chr6:31705162-31708165	HepG2	liver:	n/a	n/a
34	EP300	chr6:31705139-31706095	HepG2	liver:	n/a	n/a
35	RXRA	chr6:31705110-31705717	HepG2	liver:	n/a	chr6:31705396-31705409 chr6:31705396-31705409 chr6:31705392-31705412 chr6:31705396-31705410
36	MYBL2	chr6:31703784-31708238	HepG2	liver:	n/a	n/a
37	NFIC	chr6:31705160-31708076	HepG2	liver:	n/a	n/a
38	ZNF384	chr6:31705121-31705435	GM12878	blood:	n/a	n/a
39	NFIC	chr6:31705111-31707980	HepG2	liver:	n/a	n/a
40	RXRA	chr6:31704623-31705839	HepG2	liver:	n/a	chr6:31705396-31705409 chr6:31705396-31705409 chr6:31705392-31705412 chr6:31704706-31704715 chr6:31705396-31705410
41	POLR2A	chr6:31705172-31705626	GM12878	blood:	n/a	n/a
42	FOXA1	chr6:31705104-31707892	HepG2	liver:	n/a	chr6:31706270-31706285
43	NR2F2	chr6:31700905-31709070	K562	blood:	n/a	n/a
44	TBP	chr6:31705170-31706756	HepG2	liver:	n/a	n/a
45	ARID3A	chr6:31705177-31707900	HepG2	liver:	n/a	chr6:31707851-31707859 chr6:31707175-31707191
46	POLR2A	chr6:31705057-31705560	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31630138..31633537-chr6:31702184..31707226,4	MCF-7	breast:
2	chr6:31647222..31652409-chr6:31701244..31706736,11	MCF-7	breast:
3	chr6:31704202..31707346-chr6:32935794..32939096,3	K562	blood:
4	chr6:31637076..31639095-chr6:31704178..31706177,2	MCF-7	breast:
5	chr6:31704043..31706840-chr6:31719670..31721434,2	MCF-7	breast:
6	chr6:31680344..31682010-chr6:31704072..31705606,2	MCF-7	breast:
7	chr6:31510116..31512657-chr6:31703324..31705930,3	K562	blood:
8	chr6:31702916..31705480-chr6:31939951..31941559,2	MCF-7	breast:
9	chr6:31632734..31637057-chr6:31703384..31706202,6	MCF-7	breast:
10	chr6:31703927..31705459-chr6:32946540..32948305,2	K562	blood:
11	chr6:31646441..31651407-chr6:31704606..31708985,8	MCF-7	breast:
12	chr6:31690682..31694598-chr6:31702821..31705560,3	MCF-7	breast:
13	chr6:31668441..31672326-chr6:31702683..31707609,7	MCF-7	breast:
14	chr6:31702549..31706090-chr6:31802474..31805993,4	MCF-7	breast:
15	chr6:31656167..31662607-chr6:31701760..31709122,7	MCF-7	breast:
16	chr6:31685534..31689967-chr6:31702544..31705523,6	MCF-7	breast:
17	chr6:31703656..31706945-chr6:31827756..31831598,5	MCF-7	breast:
18	chr6:31704899..31707815-chr6:31914437..31917102,2	MCF-7	breast:
19	chr6:31587220..31590773-chr6:31700977..31706290,6	MCF-7	breast:
20	chr6:31701251..31705281-chr6:31936091..31940341,4	K562	blood:
21	chr6:31508752..31512657-chr6:31701865..31705930,6	K562	blood:

Variant related genes	Relation type
CLIC1	TF binding region
MSH5-SAPCD1	TF binding region
MSH5	TF binding region
ENSG00000201823	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000240053	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000255552	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000204422	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204420	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000204421	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17200976	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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 miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31702200-31706400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr6:31702400-31705600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:31702400-31706400	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr6:31702400-31708800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:31703800-31706400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr6:31703800-31706600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:31703800-31706800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:31704000-31706200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr6:31704200-31706200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:31704200-31706400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:31704200-31709000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:31704200-31709000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:31704400-31705200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:31704400-31705200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr6:31704400-31705600	Enhancers	Gastric	stomach
16	chr6:31704400-31705800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr6:31704400-31706400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:31704400-31706600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:31704400-31706600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr6:31704400-31706800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr6:31704400-31707400	Enhancers	Spleen	Spleen
22	chr6:31704400-31707400	Flanking Active TSS	Dnd41	blood
23	chr6:31704400-31707600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:31704400-31707600	Flanking Active TSS	Fetal Thymus	thymus
25	chr6:31704400-31708800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:31704400-31709000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr6:31704600-31706000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:31704600-31706400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:31704600-31706600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr6:31704600-31707200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:31704600-31707200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:31704600-31707200	Enhancers	Small Intestine	intestine
33	chr6:31704600-31707400	Weak transcription	Ovary	ovary
34	chr6:31704600-31707600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr6:31704600-31707600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:31704600-31707800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr6:31704800-31705200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:31704800-31705200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:31704800-31705200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:31704800-31705200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:31704800-31705200	Enhancers	Esophagus	oesophagus
42	chr6:31704800-31705200	Enhancers	Fetal Kidney	kidney
43	chr6:31704800-31705200	Enhancers	NH-A	brain
44	chr6:31704800-31705400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:31704800-31705400	Enhancers	Primary B cells from peripheral blood	blood
46	chr6:31704800-31705400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:31704800-31705400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:31704800-31705400	Enhancers	Liver	Liver
49	chr6:31704800-31705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr6:31704800-31705600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links