Variant report

Variant	rs8013017
Chromosome Location	chr14:31091138-31091139
allele	C/G
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	CCNT2	chr14:31090625-31091970	K562	blood:	n/a	chr14:31091729-31091738
2	POLR2A	chr14:31090434-31092076	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr14:31090243-31091996	MCF-7	breast:	n/a	chr14:31090438-31090446 chr14:31090435-31090444 chr14:31090433-31090446 chr14:31090435-31090444 chr14:31090434-31090445
4	ETS1	chr14:31091040-31091782	A549	lung:	n/a	chr14:31091452-31091463
5	POLR2A	chr14:31090610-31091907	K562	blood:	n/a	n/a
6	GABPA	chr14:31090666-31091921	A549	lung:	n/a	n/a
7	ARID3A	chr14:31091039-31091830	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:31090865-31092864	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr14:31090633-31092158	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr14:31091043-31091817	A549	lung:	n/a	n/a
11	NR2F2	chr14:31090464-31092008	MCF-7	breast:	n/a	n/a
12	JUND	chr14:31090854-31092033	HepG2	liver:	n/a	chr14:31091146-31091155 chr14:31091453-31091467 chr14:31091951-31091965
13	POLR2A	chr14:31090359-31092144	GM12878	blood:	n/a	n/a
14	ETS1	chr14:31091085-31091702	GM12878	blood:	n/a	chr14:31091452-31091463
15	POLR2A	chr14:31090392-31091954	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:31090527-31091944	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:31090445-31092145	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr14:31090635-31092098	GM12878	blood:	n/a	n/a
19	ZKSCAN1	chr14:31091123-31091903	Hela-S3	cervix:	n/a	n/a
20	MBD4	chr14:31090107-31092432	HepG2	liver:	n/a	n/a
21	BCL3	chr14:31091078-31091714	K562	blood:	n/a	n/a
22	POLR2A	chr14:31090363-31092065	GM12878	blood:	n/a	n/a
23	MTA3	chr14:31090324-31092061	GM12878	blood:	n/a	n/a
24	GATA3	chr14:31090227-31092177	MCF-7	breast:	n/a	chr14:31091901-31091908 chr14:31091901-31091908 chr14:31091897-31091913 chr14:31091901-31091908 chr14:31091894-31091915
25	RCOR1	chr14:31090648-31091584	K562	blood:	n/a	n/a
26	POLR2A	chr14:31090470-31092023	GM12891	blood:	n/a	n/a
27	POLR2A	chr14:31090864-31091970	U87	brain:	n/a	n/a
28	POLR2A	chr14:31090488-31092093	HUVEC	blood vessel:	n/a	n/a
29	ATF2	chr14:31090789-31091861	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr14:31090529-31092054	A549	lung:	n/a	n/a
31	ELF1	chr14:31091063-31091810	SK-N-SH	brain:	n/a	chr14:31091499-31091511 chr14:31091454-31091465
32	POLR2A	chr14:31090321-31092018	GM18505	blood:	n/a	n/a
33	POLR2A	chr14:31090367-31092021	SK-N-SH	brain:	n/a	n/a
34	GTF3C2	chr14:31091123-31091696	Hela-S3	cervix:	n/a	n/a
35	ZBTB7A	chr14:31091134-31091631	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:31090496-31092001	K562	blood:	n/a	n/a
37	POLR2A	chr14:31090449-31092032	GM12891	blood:	n/a	n/a
38	REST	chr14:31090813-31091962	HL-60	blood:	n/a	chr14:31091501-31091514
39	RCOR1	chr14:31090578-31091839	HepG2	liver:	n/a	n/a
40	SETDB1	chr14:31091103-31091576	U2OS	brain:	n/a	n/a
41	POLR2A	chr14:31090464-31091948	HepG2	liver:	n/a	n/a
42	ELF1	chr14:31090941-31091725	A549	lung:	n/a	chr14:31091499-31091511 chr14:31091454-31091465
43	TAF1	chr14:31090525-31092001	MCF-7	breast:	n/a	n/a
44	USF2	chr14:31090835-31091905	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:31091046-31091936	HCT-116	colon:	n/a	n/a
46	POLR2A	chr14:31090663-31092003	Hela-S3	cervix:	n/a	n/a
47	MYC	chr14:31091082-31091886	MCF10A-Er-Src	breast:	n/a	n/a
48	TBP	chr14:31091001-31092056	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr14:31090323-31091871	PANC-1	pancreas:	n/a	n/a
50	MAX	chr14:31090949-31091913	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31090296..31092019-chr14:31343870..31346650,2	K562	blood:
2	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
3	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
4	chr14:31090421..31092379-chr14:31107832..31110754,2	MCF-7	breast:
5	chr12:27091155..27091864-chr14:31091070..31091752,2	Hela-S3	cervix:
6	chr14:31090963..31091593-chr2:148777702..148778439,2	Hela-S3	cervix:
7	chr14:31091067..31091965-chr17:34900623..34901463,3	Hela-S3	cervix:
8	chr14:31091111..31091770-chr2:85198621..85199391,2	Hela-S3	cervix:
9	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
10	chr14:31060440..31063351-chr14:31089762..31092777,3	MCF-7	breast:
11	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:
12	chr14:31071248..31073927-chr14:31089916..31091588,2	MCF-7	breast:
13	chr14:31090926..31091428-chr4:40057983..40058796,2	NB4	blood:
14	chr14:31067708..31069634-chr14:31090291..31092583,3	MCF-7	breast:
15	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:
16	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:

Variant related genes	Relation type
SCFD1	TF binding region
ENSG00000115947	Chromatin interaction
ENSG00000176407	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000092140	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000111790	Chromatin interaction
ENSG00000078177	Chromatin interaction
ENSG00000005955	Chromatin interaction
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10130830	0.82[CHB][hapmap]
rs10131166	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141944	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10142331	0.82[CHB][hapmap]
rs10146357	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147257	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149966	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11156637	0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1123860	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622076	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622786	0.81[AMR][1000 genomes]
rs11623154	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625381	0.82[CHB][hapmap]
rs11627421	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628700	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11846293	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11846408	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11851205	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434151	0.81[CHB][hapmap]
rs12586678	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12882931	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12888568	0.81[AMR][1000 genomes]
rs12894186	0.90[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs142983	0.89[CEU][hapmap];0.84[AMR][1000 genomes]
rs17096941	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17097023	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172946	0.82[CHB][hapmap]
rs2045180	0.80[CHB][hapmap]
rs2057284	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070339	0.81[CHB][hapmap]
rs2070340	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273520	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273521	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273522	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs229144	0.82[CHB][hapmap]
rs229150	0.80[CHB][hapmap]
rs229152	0.82[CHB][hapmap]
rs229154	0.82[CHB][hapmap]
rs229161	0.82[CHB][hapmap]
rs229164	0.83[AMR][1000 genomes]
rs229190	0.82[CHB][hapmap]
rs229209	0.81[CHB][hapmap]
rs229211	0.82[CHB][hapmap]
rs229244	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs230340	0.81[CHB][hapmap]
rs230351	0.81[CHB][hapmap]
rs230364	0.82[CHB][hapmap]
rs230366	0.82[CHB][hapmap]
rs2378780	1.00[CHB][hapmap]
rs2378782	0.82[CHB][hapmap]
rs28567474	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34935871	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35069045	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35389182	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3736773	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs4430662	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs447853	0.85[AMR][1000 genomes]
rs59856095	0.84[AMR][1000 genomes]
rs61976741	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6571356	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6571357	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571361	0.82[CHB][hapmap]
rs7141333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7141624	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144204	0.80[CHB][hapmap]
rs7147530	0.82[CHB][hapmap]
rs7149113	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153509	0.82[CHB][hapmap]
rs7154847	0.81[CHB][hapmap]
rs7493549	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs761956	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006314	0.82[CHB][hapmap]
rs8008094	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012494	0.81[CHB][hapmap]
rs8015536	1.00[CHB][hapmap]
rs8018993	0.92[ASN][1000 genomes]
rs8019637	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9322864	1.00[CHB][hapmap]
rs9806111	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr14:31090200-31091200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr14:31090200-31091200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:31090200-31091200	Flanking Active TSS	GM12878-XiMat	blood
4	chr14:31090200-31091400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:31090200-31091400	Flanking Active TSS	Osteobl	bone
6	chr14:31090200-31092400	Active TSS	Duodenum Mucosa	Duodenum
7	chr14:31090200-31092400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:31090200-31092400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:31090200-31092400	Active TSS	Placenta	Placenta
10	chr14:31090200-31092400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:31090200-31092600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:31090200-31092800	Active TSS	Fetal Intestine Large	intestine
13	chr14:31090200-31092800	Active TSS	Psoas Muscle	Psoas
14	chr14:31090200-31093000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:31090200-31093200	Active TSS	Fetal Lung	lung
16	chr14:31090200-31093400	Active TSS	Fetal Brain Female	brain
17	chr14:31090200-31093400	Active TSS	Right Atrium	heart
18	chr14:31090200-31093600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:31090400-31091200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr14:31090400-31091200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr14:31090400-31091200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr14:31090400-31091200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:31090400-31091200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:31090400-31091200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:31090400-31091200	Flanking Active TSS	Fetal Thymus	thymus
26	chr14:31090400-31091200	Flanking Active TSS	Hela-S3	cervix
27	chr14:31090400-31091400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr14:31090400-31091400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:31090400-31091400	Flanking Active TSS	NHEK	skin
30	chr14:31090400-31091600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:31090400-31092000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:31090400-31092200	Active TSS	Brain Substantia Nigra	brain
33	chr14:31090400-31092200	Active TSS	Left Ventricle	heart
34	chr14:31090400-31092200	Active TSS	Ovary	ovary
35	chr14:31090400-31092400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:31090400-31092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:31090400-31092400	Active TSS	Colonic Mucosa	Colon
38	chr14:31090400-31092600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:31090400-31092600	Active TSS	Brain Angular Gyrus	brain
40	chr14:31090400-31092600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:31090400-31092600	Active TSS	Right Ventricle	heart
42	chr14:31090400-31092800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:31090400-31092800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:31090400-31092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:31090400-31092800	Active TSS	Fetal Intestine Small	intestine
46	chr14:31090400-31092800	Active TSS	Fetal Stomach	stomach
47	chr14:31090400-31092800	Active TSS	Rectal Smooth Muscle	rectum
48	chr14:31090400-31093000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:31090400-31093000	Active TSS	A549	lung
50	chr14:31090400-31093200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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