Variant report

Variant	rs3739335
Chromosome Location	chr8:67341743-67341744
allele	A/G
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	REST	chr8:67340917-67341815	A549	lung:	n/a	chr8:67341013-67341026
2	POLR2A	chr8:67341048-67342604	PBDE	blood:	n/a	n/a
3	E2F6	chr8:67340998-67341897	H1-hESC	embryonic stem cell:	n/a	chr8:67341039-67341051
4	POLR2A	chr8:67340632-67342244	HEK293	kidney:	n/a	n/a
5	POLR2A	chr8:67340955-67342153	MCF-7	breast:	n/a	n/a
6	MAX	chr8:67340905-67342438	K562	blood:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
7	CHD2	chr8:67340596-67342103	Hela-S3	cervix:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
8	RCOR1	chr8:67340131-67343104	IMR90	lung:	n/a	n/a
9	CREB1	chr8:67340815-67341818	GM12878	blood:	n/a	n/a
10	MAX	chr8:67341052-67341863	HepG2	liver:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
11	TAF1	chr8:67340667-67341985	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr8:67340821-67342201	MCF-7	breast:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
13	BHLHE40	chr8:67340966-67342234	HepG2	liver:	n/a	chr8:67341000-67341016
14	POLR2A	chr8:67340937-67341806	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF263	chr8:67341113-67342684	HEK293-T-REx	kidney:	n/a	chr8:67342273-67342294 chr8:67342244-67342265
16	SIN3A	chr8:67340551-67343021	H1-hESC	embryonic stem cell:	n/a	chr8:67340971-67340984 chr8:67341010-67341023
17	PML	chr8:67340775-67342296	GM12878	blood:	n/a	n/a
18	MAX	chr8:67340851-67341957	ECC-1	luminal epithelium:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
19	POLR2A	chr8:67340927-67341776	GM12878	blood:	n/a	n/a
20	SIN3A	chr8:67341089-67341744	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:67340347-67342470	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr8:67340948-67342472	Raji	blood:	n/a	n/a
23	TAF1	chr8:67340953-67341797	A549	lung:	n/a	n/a
24	SIN3AK20	chr8:67341000-67341816	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr8:67341700-67341850	HCM	heart:	n/a	n/a
26	GABPA	chr8:67340916-67341814	HepG2	liver:	n/a	n/a
27	POLR2A	chr8:67340662-67342188	GM18951	blood:	n/a	n/a
28	MAX	chr8:67340411-67342740	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
29	POLR2A	chr8:67340452-67342272	K562	blood:	n/a	n/a
30	MAX	chr8:67340811-67342296	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
31	GABPA	chr8:67340946-67341801	HL-60	blood:	n/a	n/a
32	SIN3AK20	chr8:67340831-67342514	HCT-116	colon:	n/a	n/a
33	MAZ	chr8:67340009-67342628	IMR90	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
34	POLR2A	chr8:67340714-67342584	GM18505	blood:	n/a	n/a
35	SMARCB1	chr8:67340506-67342379	Hela-S3	cervix:	n/a	chr8:67341062-67341071
36	MAX	chr8:67340869-67342544	MCF-7	breast:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
37	POLR2A	chr8:67340903-67341763	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:67340840-67342021	PFSK-1	brain:	n/a	n/a
39	ELF1	chr8:67340818-67342151	MCF-7	breast:	n/a	chr8:67341218-67341231
40	TCF12	chr8:67340478-67342816	A549	lung:	n/a	n/a
41	POLR2A	chr8:67340703-67342437	HepG2	liver:	n/a	n/a
42	CHD1	chr8:67340160-67343807	IMR90	lung:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
43	POLR2A	chr8:67340922-67342122	A549	lung:	n/a	n/a
44	CTCF	chr8:67340062-67342742	SK-N-SH	brain:	n/a	chr8:67340979-67340989 chr8:67340978-67340991
45	YY1	chr8:67340665-67342240	HepG2	liver:	n/a	chr8:67341000-67341014
46	CREB1	chr8:67340564-67341872	HepG2	liver:	n/a	n/a
47	MAX	chr8:67340826-67342417	HCT-116	colon:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
48	CTCF	chr8:67341726-67341774	MCF-7	breast:	n/a	n/a
49	FOXP2	chr8:67340696-67341830	PFSK-1	brain:	n/a	n/a
50	E2F6	chr8:67340919-67341777	H1-hESC	embryonic stem cell:	n/a	chr8:67341039-67341051

No.	Distal block	Cell Line	Cell type
1	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
2	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
3	chr8:67088502..67091443-chr8:67341463..67343865,2	MCF-7	breast:
4	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:

Variant related genes	Relation type
ADHFE1	TF binding region
ENSG00000246145	TF binding region
ENSG00000147573	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000147571	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16932754	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932805	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59292708	0.80[EUR][1000 genomes]
rs61484440	0.80[EUR][1000 genomes]
rs7821570	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67340200-67342000	Active TSS	Brain Angular Gyrus	brain
3	chr8:67340200-67342000	Active TSS	Brain Anterior Caudate	brain
4	chr8:67340200-67342000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:67340200-67342000	Active TSS	Colonic Mucosa	Colon
6	chr8:67340200-67342000	Active TSS	Fetal Brain Female	brain
7	chr8:67340200-67342000	Active TSS	Fetal Stomach	stomach
8	chr8:67340200-67342000	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:67340200-67342200	Active TSS	Primary T cells from cord blood	blood
10	chr8:67340200-67342200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:67340200-67342200	Active TSS	Left Ventricle	heart
12	chr8:67340200-67342800	Active TSS	Fetal Kidney	kidney
13	chr8:67340200-67342800	Active TSS	Thymus	Thymus
14	chr8:67340200-67343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:67340200-67343400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:67340200-67343600	Active TSS	Hela-S3	cervix
17	chr8:67340200-67345000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:67340200-67345200	Active TSS	NHLF	lung
19	chr8:67340200-67345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr8:67340200-67345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:67340200-67345400	Active TSS	Fetal Intestine Large	intestine
22	chr8:67340200-67345400	Active TSS	Right Atrium	heart
23	chr8:67340200-67345600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:67340200-67345600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:67340400-67342400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:67340400-67342400	Active TSS	Aorta	Aorta
27	chr8:67340400-67342400	Active TSS	Fetal Lung	lung
28	chr8:67340400-67342600	Active TSS	Esophagus	oesophagus
29	chr8:67340400-67342600	Active TSS	Gastric	stomach
30	chr8:67340400-67342600	Active TSS	Lung	lung
31	chr8:67340400-67342600	Active TSS	Osteobl	bone
32	chr8:67340400-67342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:67340400-67343000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr8:67340400-67343400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:67340400-67343400	Active TSS	Fetal Intestine Small	intestine
36	chr8:67340400-67343600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:67340400-67345000	Active TSS	HepG2	liver
40	chr8:67340400-67345000	Active TSS	HSMMtube	muscle
41	chr8:67340400-67345200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:67340400-67345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:67340400-67345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:67340400-67345400	Active TSS	Ovary	ovary
45	chr8:67340400-67345400	Active TSS	Psoas Muscle	Psoas
46	chr8:67340400-67345400	Active TSS	Right Ventricle	heart
47	chr8:67340400-67345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:67340600-67341800	Active TSS	Brain Cingulate Gyrus	brain
49	chr8:67340600-67341800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:67340600-67341800	Active TSS	Fetal Muscle Leg	muscle

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