Variant report

Variant	rs72875717
Chromosome Location	chr2:37428041-37428042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 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	chr2:37427630-37428055	GM12878	blood:	n/a	n/a
3	FOSL2	chr2:37427548-37428140	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:37427096-37428209	GM12892	blood:	n/a	n/a
5	POLR2A	chr2:37425684-37428719	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:37427811-37428144	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:37427561-37428133	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:37427644-37428171	HL-60	blood:	n/a	n/a
9	POLR2A	chr2:37427642-37428245	K562	blood:	n/a	n/a
10	POLR2A	chr2:37427591-37428201	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:37426593-37428257	A549	lung:	n/a	n/a
12	POLR2A	chr2:37427539-37428130	HL-60	blood:	n/a	n/a
13	POLR2A	chr2:37426951-37428204	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr2:37426779-37428128	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:37427639-37428093	GM12892	blood:	n/a	n/a
16	POLR2A	chr2:37427084-37428123	K562	blood:	n/a	n/a
17	POLR2A	chr2:37425411-37429342	K562	blood:	n/a	n/a
18	POLR2A	chr2:37427637-37428054	K562	blood:	n/a	n/a
19	POLR2A	chr2:37427501-37428130	GM12891	blood:	n/a	n/a
20	POLR2A	chr2:37428041-37428047	K562	blood:	n/a	n/a
21	POLR2A	chr2:37425566-37428266	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:37427568-37428045	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:37427598-37428180	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr2:37427193-37428177	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:37427506-37428121	GM12892	blood:	n/a	n/a
26	POLR2A	chr2:37427118-37428474	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr2:37427563-37428156	H1-hESC	embryonic stem cell:	n/a	n/a
28	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
ENSG00000055332	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000003509	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]
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	chr2:37424400-37430800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37424400-37433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
4	chr2:37424600-37429000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:37424600-37430400	Weak transcription	Fetal Heart	heart
6	chr2:37424600-37430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:37424600-37430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:37424600-37430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:37424600-37430800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:37424600-37430800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:37424600-37430800	Weak transcription	Gastric	stomach
12	chr2:37424800-37428200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:37424800-37428200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:37424800-37428400	Weak transcription	Fetal Brain Male	brain
15	chr2:37424800-37428400	Weak transcription	HMEC	breast
16	chr2:37424800-37429000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:37424800-37429000	Weak transcription	Aorta	Aorta
18	chr2:37424800-37430600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:37424800-37430800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:37424800-37430800	Weak transcription	Thymus	Thymus
21	chr2:37424800-37430800	Weak transcription	HSMMtube	muscle
22	chr2:37424800-37433200	Weak transcription	Right Atrium	heart
23	chr2:37425000-37428400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:37425000-37428600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:37425000-37429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:37425000-37429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:37425000-37433200	Weak transcription	Esophagus	oesophagus
28	chr2:37425000-37433200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:37425000-37444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:37425200-37428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:37425200-37429000	Weak transcription	Left Ventricle	heart
32	chr2:37425200-37430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:37425200-37430800	Weak transcription	Right Ventricle	heart
34	chr2:37425200-37433000	Weak transcription	Colonic Mucosa	Colon
35	chr2:37425200-37433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:37425200-37433200	Weak transcription	Pancreas	Pancrea
37	chr2:37425200-37433200	Weak transcription	Stomach Mucosa	stomach
38	chr2:37425200-37433200	Weak transcription	Spleen	Spleen
39	chr2:37425400-37428400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:37425800-37429400	Genic enhancers	Dnd41	blood
41	chr2:37425800-37430600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:37426000-37428200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:37426000-37429800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:37426000-37430400	Weak transcription	K562	blood
45	chr2:37426200-37428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:37426200-37430800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:37426200-37438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:37426400-37429400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:37426600-37428400	Strong transcription	HSMM	muscle
50	chr2:37426600-37430400	Strong transcription	A549	lung

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