Variant report

Variant	rs7611516
Chromosome Location	chr3:56711615-56711616
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	chr3:56709994-56712251	K562	blood:	n/a	n/a
2	IKZF1	chr3:56711389-56711684	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:56711212-56711643	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr3:56711360-56711631	GM12891	blood:	n/a	n/a
5	STAT3	chr3:56711499-56711655	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:56709338-56712164	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr3:56711371-56711615	GM12878	blood:	n/a	n/a
8	BATF	chr3:56711403-56711695	GM12878	blood:	n/a	chr3:56711684-56711693 chr3:56711555-56711566
9	POLR2A	chr3:56710970-56711736	GM12878	blood:	n/a	n/a
10	RUNX3	chr3:56711237-56711694	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:56711186-56711679	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr3:56710287-56712134	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:56711109..56714391-chr3:56717024..56719996,3	MCF-7	breast:
2	chr3:56703908..56706508-chr3:56709177..56711950,2	MCF-7	breast:
3	chr3:56706853..56709205-chr3:56711139..56713075,2	K562	blood:
4	chr3:56706256..56709205-chr3:56710183..56712639,4	K562	blood:
5	chr3:56704739..56707256-chr3:56710407..56712179,3	MCF-7	breast:
6	chr3:56703955..56705738-chr3:56711605..56713390,2	K562	blood:

Variant related genes	Relation type
FAM208A	TF binding region
ENSG00000163946	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11549487	1.00[AFR][1000 genomes]
rs11926770	0.94[AFR][1000 genomes]
rs282535	1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs4299454	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs59285806	0.87[AMR][1000 genomes]
rs7619518	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7635349	1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs7637301	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9311608	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9860455	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9879536	0.98[AFR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56642800-56713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:56675800-56716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:56684400-56715200	Weak transcription	Fetal Heart	heart
4	chr3:56695400-56716000	Weak transcription	Fetal Brain Male	brain
5	chr3:56695600-56715600	Weak transcription	Stomach Mucosa	stomach
6	chr3:56699600-56716000	Weak transcription	Fetal Kidney	kidney
7	chr3:56699600-56716200	Weak transcription	Spleen	Spleen
8	chr3:56699800-56716000	Weak transcription	Aorta	Aorta
9	chr3:56701800-56716000	Weak transcription	Psoas Muscle	Psoas
10	chr3:56702400-56715400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:56702400-56716200	Weak transcription	Small Intestine	intestine
12	chr3:56702600-56715800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:56702600-56716000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:56702600-56716000	Weak transcription	Colonic Mucosa	Colon
15	chr3:56702800-56712800	Weak transcription	Fetal Brain Female	brain
16	chr3:56702800-56713400	Weak transcription	Brain Substantia Nigra	brain
17	chr3:56702800-56715800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:56703000-56716200	Weak transcription	Ovary	ovary
19	chr3:56703200-56716000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:56703400-56713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:56703600-56715400	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:56704000-56713200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:56704000-56714200	Weak transcription	NHLF	lung
24	chr3:56704600-56713400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:56704600-56714200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:56704800-56714200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:56704800-56714200	Weak transcription	NHEK	skin
28	chr3:56704800-56714400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:56704800-56714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:56704800-56714800	Weak transcription	HMEC	breast
31	chr3:56704800-56715600	Weak transcription	HSMMtube	muscle
32	chr3:56704800-56715800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:56704800-56716000	Weak transcription	Brain Germinal Matrix	brain
34	chr3:56704800-56716200	Weak transcription	Left Ventricle	heart
35	chr3:56705200-56713400	Weak transcription	A549	lung
36	chr3:56705200-56715200	Weak transcription	Thymus	Thymus
37	chr3:56705200-56716000	Weak transcription	Fetal Lung	lung
38	chr3:56705200-56716000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:56705200-56716200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:56705400-56712200	Weak transcription	Lung	lung
41	chr3:56705400-56712800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:56705400-56713400	Weak transcription	Primary T cells from cord blood	blood
43	chr3:56705400-56715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:56705400-56716000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:56705400-56716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:56705400-56716200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:56705400-56716200	Weak transcription	Gastric	stomach
48	chr3:56705800-56715400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr3:56705800-56715400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:56706200-56714200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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