Variant report

Variant	rs34028707
Chromosome Location	chr1:211817405-211817406
allele	C/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	ZBTB7A	chr1:211817336-211817556	K562	blood:	n/a	n/a
2	FOXA1	chr1:211817146-211817538	HepG2	liver:	n/a	n/a
3	FOXA1	chr1:211817157-211817408	ECC-1	luminal epithelium:	n/a	n/a
4	RCOR1	chr1:211816693-211817600	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr1:211816869-211817647	ECC-1	luminal epithelium:	n/a	n/a
6	TCF7L2	chr1:211816461-211817510	PANC-1	pancreas:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
7	HDAC2	chr1:211816525-211817537	HepG2	liver:	n/a	chr1:211816752-211816760 chr1:211817165-211817184
8	CBX3	chr1:211817276-211817626	K562	blood:	n/a	n/a
9	FOXA2	chr1:211817147-211817504	A549	lung:	n/a	n/a
10	EP300	chr1:211816493-211817563	HepG2	liver:	n/a	chr1:211817303-211817313 chr1:211817067-211817083
11	POLR2A	chr1:211816733-211817510	Hela-S3	cervix:	n/a	n/a
12	USF2	chr1:211816938-211817552	Hela-S3	cervix:	n/a	n/a
13	TCF7L2	chr1:211816599-211817766	Hela-S3	cervix:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
14	POLR2A	chr1:211815491-211817685	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr1:211816862-211817530	Hela-S3	cervix:	n/a	n/a
16	STAT1	chr1:211816244-211817683	Hela-S3	cervix:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328 chr1:211817577-211817588
17	FOXA2	chr1:211817123-211817454	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:211817084-211817649	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr1:211817004-211817586	A549	lung:	n/a	n/a
20	FOXA1	chr1:211817075-211817556	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:211816536-211817487	HepG2	liver:	n/a	n/a
22	SMC3	chr1:211816739-211817582	Hela-S3	cervix:	n/a	chr1:211817532-211817546
23	MAX	chr1:211816548-211817462	A549	lung:	n/a	chr1:211816943-211816952
24	YY1	chr1:211817391-211817570	K562	blood:	n/a	chr1:211817532-211817540
25	MYC	chr1:211817286-211817552	K562	blood:	n/a	n/a
26	STAT3	chr1:211816764-211817497	MCF10A-Er-Src	breast:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328
27	NFIC	chr1:211816943-211817536	SK-N-SH	brain:	n/a	n/a
28	CHD2	chr1:211816797-211817575	Hela-S3	cervix:	n/a	n/a
29	HDAC2	chr1:211816945-211817607	MCF-7	breast:	n/a	chr1:211817165-211817184
30	MAX	chr1:211816621-211817674	Hela-S3	cervix:	n/a	chr1:211816943-211816952
31	BACH1	chr1:211817401-211817500	K562	blood:	n/a	n/a
32	TCF7L2	chr1:211816593-211817535	HCT-116	colon:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
33	TBP	chr1:211816785-211817575	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr1:211816622-211817485	HepG2	liver:	n/a	n/a
35	MYC	chr1:211816792-211817758	MCF10A-Er-Src	breast:	n/a	chr1:211816943-211816952
36	ZNF143	chr1:211816827-211817457	Hela-S3	cervix:	n/a	n/a
37	MAFK	chr1:211816606-211817654	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:211816584-211817508	PANC-1	pancreas:	n/a	n/a
39	FOXA1	chr1:211816462-211817492	HepG2	liver:	n/a	n/a
40	CTCF	chr1:211817297-211817700	K562	blood:	n/a	chr1:211817530-211817548 chr1:211817532-211817545
41	MXI1	chr1:211816713-211817810	SK-N-SH	brain:	n/a	n/a
42	FOXA1	chr1:211816899-211817482	T-47D	breast:	n/a	n/a
43	NFIC	chr1:211816719-211817754	SK-N-SH	brain:	n/a	n/a
44	FOXA2	chr1:211816961-211817600	A549	lung:	n/a	n/a
45	FOXA1	chr1:211816576-211817582	HepG2	liver:	n/a	n/a
46	FOXA1	chr1:211817096-211817455	T-47D	breast:	n/a	n/a
47	E2F6	chr1:211817404-211817566	K562	blood:	n/a	n/a
48	RAD21	chr1:211817374-211817633	SK-N-SH_RA	brain:	n/a	chr1:211817531-211817544 chr1:211817521-211817535
49	GTF2F1	chr1:211816732-211817530	Hela-S3	cervix:	n/a	n/a
50	RAD21	chr1:211817398-211817578	K562	blood:	n/a	chr1:211817531-211817544 chr1:211817521-211817535

No.	Distal block	Cell Line	Cell type
1	chr1:211816612..211818942-chr1:211819387..211821012,2	MCF-7	breast:
2	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:

Variant related genes	Relation type
ENSG00000228792	TF binding region
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10157989	0.95[ASN][1000 genomes]
rs10158618	0.95[ASN][1000 genomes]
rs10158723	0.95[ASN][1000 genomes]
rs10158740	0.95[ASN][1000 genomes]
rs11577181	0.95[ASN][1000 genomes]
rs11580557	0.95[ASN][1000 genomes]
rs11590554	0.95[ASN][1000 genomes]
rs12239534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711504	0.95[ASN][1000 genomes]
rs12711505	0.95[ASN][1000 genomes]
rs12711506	0.95[ASN][1000 genomes]
rs12711507	0.95[ASN][1000 genomes]
rs12730869	0.95[ASN][1000 genomes]
rs12749444	0.91[ASN][1000 genomes]
rs12751564	0.95[ASN][1000 genomes]
rs12755496	0.95[ASN][1000 genomes]
rs12756676	0.95[ASN][1000 genomes]
rs17017855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951414	0.80[ASN][1000 genomes]
rs4951417	0.85[ASN][1000 genomes]
rs4951420	0.81[ASN][1000 genomes]
rs7529914	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
5	chr1:211814600-211818600	Flanking Active TSS	Hela-S3	cervix
6	chr1:211816000-211817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:211816000-211818000	Enhancers	Fetal Thymus	thymus
8	chr1:211816000-211818400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:211816200-211817600	Enhancers	Brain Hippocampus Middle	brain
10	chr1:211816200-211817600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:211816200-211817600	Enhancers	Ovary	ovary
12	chr1:211816200-211817600	Enhancers	Pancreas	Pancrea
13	chr1:211816200-211817600	Enhancers	Stomach Mucosa	stomach
14	chr1:211816200-211817800	Flanking Active TSS	HepG2	liver
15	chr1:211816200-211818600	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:211816200-211819400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:211816400-211817600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:211816400-211817600	Enhancers	Gastric	stomach
19	chr1:211816400-211817600	Enhancers	Spleen	Spleen
20	chr1:211816400-211817600	Enhancers	NH-A	brain
21	chr1:211816400-211817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:211816400-211817800	Enhancers	HMEC	breast
23	chr1:211816400-211817800	Enhancers	K562	blood
24	chr1:211816600-211817600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:211816600-211817600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:211816600-211817600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:211816600-211817600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:211816600-211817600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:211816600-211817600	Enhancers	Esophagus	oesophagus
30	chr1:211816600-211817600	Enhancers	Placenta	Placenta
31	chr1:211816600-211817600	Enhancers	Right Atrium	heart
32	chr1:211816600-211817600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:211816600-211817800	Enhancers	Right Ventricle	heart
34	chr1:211816600-211818400	Enhancers	Adipose Nuclei	Adipose
35	chr1:211816600-211818800	Enhancers	Liver	Liver
36	chr1:211816800-211817600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:211816800-211817600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:211816800-211817600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:211816800-211817600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:211816800-211817600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr1:211816800-211817600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:211816800-211817600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:211816800-211817600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:211816800-211817600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:211816800-211817600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:211816800-211817600	Enhancers	Brain Substantia Nigra	brain
47	chr1:211816800-211817600	Enhancers	Fetal Brain Male	brain
48	chr1:211816800-211817600	Enhancers	Thymus	Thymus
49	chr1:211816800-211817600	Flanking Active TSS	A549	lung
50	chr1:211816800-211817600	Enhancers	HUVEC	blood vessel

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