Variant report

Variant	rs72875709
Chromosome Location	chr2:37423678-37423679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:344)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:344 , 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	HEY1	chr2:37423334-37423983	K562	blood:	n/a	n/a
2	CHD2	chr2:37423609-37424442	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:37423378-37424504	ECC-1	luminal epithelium:	n/a	n/a
4	HCFC1	chr2:37423414-37424398	K562	blood:	n/a	n/a
5	ELF1	chr2:37423226-37424520	MCF-7	breast:	n/a	n/a
6	RCOR1	chr2:37423363-37424368	K562	blood:	n/a	n/a
7	POLR2A	chr2:37423312-37423969	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:37423327-37424434	K562	blood:	n/a	n/a
9	STAT1	chr2:37423404-37423823	GM12878	blood:	n/a	n/a
10	JUND	chr2:37423470-37424455	A549	lung:	n/a	n/a
11	TBP	chr2:37423398-37423817	GM12878	blood:	n/a	n/a
12	TEAD4	chr2:37423251-37424437	K562	blood:	n/a	n/a
13	PML	chr2:37423401-37424006	K562	blood:	n/a	n/a
14	ZMIZ1	chr2:37423355-37423881	K562	blood:	n/a	n/a
15	ELF1	chr2:37423214-37424064	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:37423514-37423994	GM10847	blood:	n/a	n/a
17	ELF1	chr2:37423335-37424018	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:37423390-37424273	GM18526	blood:	n/a	n/a
19	SIX5	chr2:37423675-37423976	A549	lung:	n/a	n/a
20	ZNF143	chr2:37423409-37424057	Hela-S3	cervix:	n/a	chr2:37423964-37423974 chr2:37423996-37424014
21	TAF1	chr2:37423428-37423830	SK-N-SH	brain:	n/a	n/a
22	MAX	chr2:37423209-37424633	HepG2	liver:	n/a	n/a
23	TBP	chr2:37423412-37424283	K562	blood:	n/a	n/a
24	POLR2A	chr2:37423338-37424677	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr2:37423321-37424323	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:37422936-37425300	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:37423339-37424520	HL-60	blood:	n/a	n/a
28	POLR2A	chr2:37423388-37424522	GM18505	blood:	n/a	n/a
29	FOS	chr2:37423478-37423678	MCF10A-Er-Src	breast:	n/a	n/a
30	CHD2	chr2:37423363-37424367	Hela-S3	cervix:	n/a	n/a
31	TBP	chr2:37423291-37424333	HepG2	liver:	n/a	n/a
32	POU2F2	chr2:37423520-37423890	GM12891	blood:	n/a	n/a
33	TAF1	chr2:37423499-37423892	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr2:37423384-37424244	Hela-S3	cervix:	n/a	n/a
35	CCNT2	chr2:37423553-37424237	K562	blood:	n/a	n/a
36	MAX	chr2:37423376-37424385	HepG2	liver:	n/a	n/a
37	KAP1	chr2:37423353-37423948	U2OS	brain:	n/a	n/a
38	MTA3	chr2:37423188-37424785	GM12878	blood:	n/a	n/a
39	MAX	chr2:37423590-37424397	K562	blood:	n/a	n/a
40	POLR2A	chr2:37423499-37424333	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr2:37423543-37424249	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:37423383-37424339	Gliobla	brain:	n/a	n/a
43	POLR2A	chr2:37423345-37424451	GM12878	blood:	n/a	n/a
44	MAZ	chr2:37423329-37424443	K562	blood:	n/a	n/a
45	TBP	chr2:37423316-37423866	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr2:37423483-37424146	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr2:37423451-37423966	H1-neurons	neurons:	n/a	n/a
48	MXI1	chr2:37423362-37424535	GM12878	blood:	n/a	n/a
49	TAF1	chr2:37423464-37424190	HepG2	liver:	n/a	n/a
50	POLR2A	chr2:37423325-37424407	Raji	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37423544..37424311-chr3:149530508..149531013,2	Hela-S3	cervix:
2	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:
3	chr2:37416928..37419854-chr2:37422137..37424726,5	K562	blood:
4	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
5	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
6	chr2:37414854..37419854-chr2:37421416..37424726,5	K562	blood:
7	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
8	chr2:37423528..37425114-chr2:37439961..37442863,2	MCF-7	breast:
9	chr2:37375443..37378209-chr2:37422439..37424991,2	MCF-7	breast:
10	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
11	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
12	chr2:37420171..37423121-chr2:37423446..37425110,2	K562	blood:

No data

Variant related genes	Relation type
SULT6B1	TF binding region
ENSG00000233159	TF binding region
ENSG00000082996	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000224891	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000115816	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]
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]
rs7591816	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	chr2:37418600-37427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:37422600-37424400	Active TSS	Colon Smooth Muscle	Colon
3	chr2:37423000-37424000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr2:37423000-37424200	Active TSS	Brain Angular Gyrus	brain
5	chr2:37423000-37424200	Active TSS	Brain Cingulate Gyrus	brain
6	chr2:37423000-37424600	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:37423000-37424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:37423000-37424800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:37423000-37425400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:37423200-37424000	Active TSS	Primary B cells from cord blood	blood
11	chr2:37423200-37424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:37423200-37424000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:37423200-37424000	Active TSS	HUVEC	blood vessel
14	chr2:37423200-37424200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37423200-37424200	Active TSS	Primary T cells from cord blood	blood
16	chr2:37423200-37424200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:37423200-37424200	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr2:37423200-37424200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:37423200-37424200	Active TSS	Liver	Liver
20	chr2:37423200-37424200	Active TSS	Brain Hippocampus Middle	brain
21	chr2:37423200-37424200	Active TSS	Brain Substantia Nigra	brain
22	chr2:37423200-37424200	Active TSS	Colonic Mucosa	Colon
23	chr2:37423200-37424200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:37423200-37424200	Active TSS	Fetal Brain Male	brain
25	chr2:37423200-37424200	Active TSS	Fetal Brain Female	brain
26	chr2:37423200-37424200	Active TSS	Placenta	Placenta
27	chr2:37423200-37424200	Active TSS	Left Ventricle	heart
28	chr2:37423200-37424200	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:37423200-37424200	Active TSS	Stomach Mucosa	stomach
30	chr2:37423200-37424200	Active TSS	K562	blood
31	chr2:37423200-37424200	Active TSS	NHLF	lung
32	chr2:37423200-37424400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:37423200-37424400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:37423200-37424400	Active TSS	Brain Anterior Caudate	brain
35	chr2:37423200-37424400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:37423200-37424400	Active TSS	Fetal Kidney	kidney
37	chr2:37423200-37424400	Active TSS	Fetal Lung	lung
38	chr2:37423200-37424400	Active TSS	Rectal Smooth Muscle	rectum
39	chr2:37423200-37424400	Active TSS	Small Intestine	intestine
40	chr2:37423200-37424400	Active TSS	NHDF-Ad	bronchial
41	chr2:37423200-37424400	Active TSS	NHEK	skin
42	chr2:37423200-37424400	Active TSS	Osteobl	bone
43	chr2:37423200-37424600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:37423200-37424600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:37423200-37424600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:37423200-37424600	Active TSS	Brain Germinal Matrix	brain
47	chr2:37423200-37424600	Active TSS	Fetal Heart	heart
48	chr2:37423200-37424600	Active TSS	Fetal Intestine Large	intestine
49	chr2:37423200-37424600	Active TSS	Ovary	ovary
50	chr2:37423200-37424600	Active TSS	Psoas Muscle	Psoas

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