Variant report

Variant	rs7591816
Chromosome Location	chr2:37427539-37427540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37426997-37428583	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:37427514-37427558	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:37427096-37428209	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:37425684-37428719	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:37427001-37427593	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr2:37427002-37427654	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:37426593-37428257	A549	lung:	n/a	n/a
8	POLR2A	chr2:37427539-37428130	HL-60	blood:	n/a	n/a
9	POLR2A	chr2:37426291-37427645	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr2:37426951-37428204	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr2:37426779-37428128	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:37427487-37427583	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:37426445-37427657	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:37427008-37427586	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:37427084-37428123	K562	blood:	n/a	n/a
16	POLR2A	chr2:37425411-37429342	K562	blood:	n/a	n/a
17	POLR2A	chr2:37427501-37428130	GM12891	blood:	n/a	n/a
18	POLR2A	chr2:37425566-37428266	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:37426788-37427811	HCT-116	colon:	n/a	n/a
20	POLR2A	chr2:37427005-37427644	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:37427193-37428177	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:37427506-37428121	GM12892	blood:	n/a	n/a
23	POLR2A	chr2:37427118-37428474	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr2:37427169-37428207	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37422648..37425855-chr2:37426588..37429472,6	MCF-7	breast:
2	chr2:37416656..37421292-chr2:37425395..37428971,5	MCF-7	breast:
3	chr2:37382740..37384545-chr2:37426545..37428668,2	MCF-7	breast:
4	chr2:37426617..37429540-chr2:37457354..37459837,4	MCF-7	breast:
5	chr2:37427347..37429134-chr2:37454276..37457065,3	MCF-7	breast:

No data

Variant related genes	Relation type
SULT6B1	TF binding region
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000218739	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11894772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11895496	0.93[AFR][1000 genomes]
rs17020307	0.93[AFR][1000 genomes]
rs17020309	0.93[AFR][1000 genomes]
rs60698646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874094	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875740	0.93[AFR][1000 genomes]
rs72875743	0.87[AFR][1000 genomes]
rs72875745	0.87[AFR][1000 genomes]
rs72875750	0.87[AFR][1000 genomes]
rs72875751	0.87[AFR][1000 genomes]
rs72875758	0.87[AFR][1000 genomes]
rs72875760	0.87[AFR][1000 genomes]
rs7557416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37424400-37427600	Weak transcription	Lung	lung
2	chr2:37424400-37430800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:37424400-37433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
5	chr2:37424600-37429000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:37424600-37430400	Weak transcription	Fetal Heart	heart
7	chr2:37424600-37430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:37424600-37430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:37424600-37430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:37424600-37430800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:37424600-37430800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:37424600-37430800	Weak transcription	Gastric	stomach
13	chr2:37424800-37427600	Weak transcription	Liver	Liver
14	chr2:37424800-37427600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:37424800-37427600	Weak transcription	Fetal Stomach	stomach
16	chr2:37424800-37427600	Weak transcription	NH-A	brain
17	chr2:37424800-37427800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:37424800-37427800	Weak transcription	Fetal Kidney	kidney
19	chr2:37424800-37427800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:37424800-37428000	Weak transcription	NHDF-Ad	bronchial
21	chr2:37424800-37428200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:37424800-37428200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:37424800-37428400	Weak transcription	Fetal Brain Male	brain
24	chr2:37424800-37428400	Weak transcription	HMEC	breast
25	chr2:37424800-37429000	Weak transcription	Primary T cells from cord blood	blood
26	chr2:37424800-37429000	Weak transcription	Aorta	Aorta
27	chr2:37424800-37430600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:37424800-37430800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:37424800-37430800	Weak transcription	Thymus	Thymus
30	chr2:37424800-37430800	Weak transcription	HSMMtube	muscle
31	chr2:37424800-37433200	Weak transcription	Right Atrium	heart
32	chr2:37425000-37427600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:37425000-37427600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:37425000-37427600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:37425000-37427600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:37425000-37427800	Weak transcription	Ovary	ovary
37	chr2:37425000-37427800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:37425000-37427800	Weak transcription	NHLF	lung
39	chr2:37425000-37428000	Weak transcription	NHEK	skin
40	chr2:37425000-37428400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:37425000-37428600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:37425000-37429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:37425000-37429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:37425000-37433200	Weak transcription	Esophagus	oesophagus
45	chr2:37425000-37433200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:37425000-37444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:37425200-37427600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:37425200-37427600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:37425200-37427600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:37425200-37427800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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