Variant report

Variant	rs6947974
Chromosome Location	chr7:99156506-99156507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:322)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr7:99155655-99156616	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99155378-99156994	K562	blood:	n/a	n/a
3	YY1	chr7:99155663-99156753	HepG2	liver:	n/a	n/a
4	MAX	chr7:99155735-99156808	GM12878	blood:	n/a	chr7:99156770-99156780
5	POLR2A	chr7:99155377-99156965	MCF10A-Er-Src	breast:	n/a	n/a
6	HDAC2	chr7:99155827-99156517	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:99155659-99156778	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:99156265-99156667	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr7:99155676-99156878	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:99155570-99156624	HUVEC	blood vessel:	n/a	n/a
11	TAL1	chr7:99155908-99156660	K562	blood:	n/a	n/a
12	ZBTB7A	chr7:99155750-99156760	K562	blood:	n/a	chr7:99155987-99155996
13	SIN3AK20	chr7:99155565-99156919	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr7:99155531-99156908	HepG2	liver:	n/a	n/a
15	MXI1	chr7:99155878-99156710	K562	blood:	n/a	n/a
16	REST	chr7:99154779-99156819	HL-60	blood:	n/a	n/a
17	ETS1	chr7:99155807-99156708	K562	blood:	n/a	n/a
18	GATA3	chr7:99155596-99156831	A549	lung:	n/a	n/a
19	POLR2A	chr7:99155537-99156940	MCF10A-Er-Src	breast:	n/a	n/a
20	IRF1	chr7:99155882-99156667	K562	blood:	n/a	n/a
21	SIN3AK20	chr7:99155693-99156539	A549	lung:	n/a	n/a
22	TBP	chr7:99155799-99156698	HepG2	liver:	n/a	n/a
23	HEY1	chr7:99155325-99157387	K562	blood:	n/a	n/a
24	POLR2A	chr7:99155699-99156842	GM15510	blood:	n/a	n/a
25	YY1	chr7:99155425-99157090	SK-N-SH	brain:	n/a	n/a
26	YY1	chr7:99155631-99156646	ECC-1	luminal epithelium:	n/a	n/a
27	ELK4	chr7:99155739-99156648	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr7:99155365-99156953	GM12891	blood:	n/a	n/a
29	POLR2A	chr7:99155661-99156701	HCT-116	colon:	n/a	n/a
30	POLR2A	chr7:99155677-99156867	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:99155349-99156863	GM12892	blood:	n/a	n/a
32	MBD4	chr7:99155916-99156702	HepG2	liver:	n/a	n/a
33	MAX	chr7:99155518-99156973	NB4	blood:	n/a	chr7:99156770-99156780
34	RUNX3	chr7:99155677-99157047	GM12878	blood:	n/a	n/a
35	CEBPD	chr7:99155891-99156567	K562	blood:	n/a	n/a
36	POLR2A	chr7:99155791-99156879	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:99155475-99156770	GM19099	blood:	n/a	n/a
38	ZNF263	chr7:99155633-99157133	HEK293-T-REx	kidney:	n/a	chr7:99156695-99156704
39	SIX5	chr7:99155722-99156554	A549	lung:	n/a	n/a
40	ELK4	chr7:99156030-99156506	HEK293	kidney:	n/a	n/a
41	MXI1	chr7:99155152-99156864	Hela-S3	cervix:	n/a	n/a
42	MAX	chr7:99155453-99156890	K562	blood:	n/a	chr7:99156770-99156780
43	ELF1	chr7:99155678-99156819	SK-N-SH	brain:	n/a	n/a
44	MYC	chr7:99155585-99157138	K562	blood:	n/a	chr7:99156770-99156780
45	POLR2A	chr7:99155481-99156974	HL-60	blood:	n/a	n/a
46	HCFC1	chr7:99155697-99156901	K562	blood:	n/a	n/a
47	POLR2A	chr7:99155465-99156861	GM19193	blood:	n/a	n/a
48	CHD1	chr7:99155316-99156774	GM12878	blood:	n/a	n/a
49	MAX	chr7:99155684-99156865	K562	blood:	n/a	chr7:99156770-99156780
50	POU2F2	chr7:99155601-99156527	GM12891	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
2	chr7:99101331..99104822-chr7:99153806..99158131,11	K562	blood:
3	chr7:99154460..99156596-chr7:99515467..99517004,2	K562	blood:
4	chr7:99094587..99099514-chr7:99154661..99157582,5	K562	blood:
5	chr7:99049487..99052484-chr7:99154940..99156543,2	K562	blood:
6	chr7:99005603..99007986-chr7:99155532..99158163,2	K562	blood:
7	chr7:99060444..99064436-chr7:99153650..99156512,4	K562	blood:
8	chr12:109535268..109535783-chr7:99156057..99156569,2	HCT-116	colon:
9	chr7:99153240..99158172-chr7:99212624..99218049,13	K562	blood:
10	chr7:99094587..99100534-chr7:99152995..99157420,10	K562	blood:
11	chr7:99068908..99072651-chr7:99154750..99158224,8	K562	blood:
12	chr7:99154927..99157797-chr7:99646384..99648528,2	K562	blood:
13	chr7:99101000..99104995-chr7:99153806..99158171,7	K562	blood:
14	chr7:99096384..99098728-chr7:99154731..99157565,2	MCF-7	breast:
15	chr7:99148330..99152549-chr7:99153303..99160203,7	MCF-7	breast:
16	chr7:99068023..99071798-chr7:99154715..99160193,6	K562	blood:
17	chr7:99062243..99066385-chr7:99154728..99156714,5	K562	blood:
18	chr7:99155790..99158631-chr7:99212983..99215798,6	K562	blood:
19	chr7:99154663..99157648-chr7:99258389..99261755,3	K562	blood:

No data

Variant related genes	Relation type
FAM200A	TF binding region
ENSG00000197037	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000196652	Chromatin interaction
ENSG00000106258	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000076248	Chromatin interaction
ENSG00000166529	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10215765	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215854	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236240	1.00[ASN][1000 genomes]
rs10240199	0.86[EUR][1000 genomes]
rs10264505	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265385	0.86[EUR][1000 genomes]
rs10268984	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10273424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275381	1.00[ASN][1000 genomes]
rs10277447	1.00[ASN][1000 genomes]
rs10808111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808112	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953288	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10953289	1.00[ASN][1000 genomes]
rs11555142	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761528	1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766423	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971640	1.00[ASN][1000 genomes]
rs11973173	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11978345	1.00[ASN][1000 genomes]
rs11980995	1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	1.00[ASN][1000 genomes]
rs12531852	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12533251	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13227522	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161687	1.00[ASN][1000 genomes]
rs17161761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003498	1.00[ASN][1000 genomes]
rs28371764	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28419687	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602855	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627543	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862110	1.00[CEU][hapmap]
rs28988579	1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34111611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34257469	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35183025	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296070	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45618033	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs66509940	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs6947826	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955891	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960810	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs704798	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7778859	1.00[ASN][1000 genomes]
rs9632722	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656060	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6947974	GS1-259H13.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99154800-99156800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr7:99154800-99157400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:99154800-99157600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:99154800-99157600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:99154800-99157800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:99154800-99157800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:99154800-99158200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:99155000-99156600	Active TSS	Fetal Muscle Trunk	muscle
9	chr7:99155000-99157200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:99155000-99157200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:99155000-99157200	Active TSS	Pancreas	Pancrea
12	chr7:99155000-99157400	Active TSS	Psoas Muscle	Psoas
13	chr7:99155000-99157600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:99155000-99157600	Active TSS	Right Atrium	heart
15	chr7:99155000-99158000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:99155200-99157200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:99155200-99157200	Active TSS	Colonic Mucosa	Colon
18	chr7:99155200-99157200	Active TSS	Fetal Intestine Large	intestine
19	chr7:99155200-99157400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:99155200-99157400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:99155200-99157400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:99155200-99157600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:99155200-99157600	Active TSS	HSMM	muscle
24	chr7:99155200-99157600	Active TSS	HSMMtube	muscle
25	chr7:99155200-99157600	Active TSS	NHDF-Ad	bronchial
26	chr7:99155200-99157800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:99155200-99157800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:99155200-99157800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:99155200-99157800	Active TSS	NHLF	lung
30	chr7:99155200-99158000	Active TSS	A549	lung
31	chr7:99155200-99158000	Active TSS	GM12878-XiMat	blood
32	chr7:99155200-99158200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:99155400-99156800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:99155400-99156800	Active TSS	Duodenum Mucosa	Duodenum
35	chr7:99155400-99156800	Active TSS	Fetal Brain Male	brain
36	chr7:99155400-99156800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr7:99155400-99157000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:99155400-99157000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:99155400-99157000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:99155400-99157000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:99155400-99157000	Active TSS	Brain Anterior Caudate	brain
42	chr7:99155400-99157000	Active TSS	Brain Substantia Nigra	brain
43	chr7:99155400-99157000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:99155400-99157000	Active TSS	Fetal Muscle Leg	muscle
45	chr7:99155400-99157000	Active TSS	Fetal Thymus	thymus
46	chr7:99155400-99157000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr7:99155400-99157000	Active TSS	Spleen	Spleen
48	chr7:99155400-99157200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:99155400-99157200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:99155400-99157200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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