Variant report

Variant	rs7551686
Chromosome Location	chr1:151811810-151811811
allele	C/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	EBF1	chr1:151811756-151812110	GM12878	blood:	n/a	chr1:151811998-151812009 chr1:151811997-151812010 chr1:151811906-151811919
2	TAF1	chr1:151811648-151812942	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:151810965-151813837	H1-hESC	embryonic stem cell:	n/a	n/a
4	HDAC2	chr1:151811487-151813549	MCF-7	breast:	n/a	n/a
5	EBF1	chr1:151811736-151812086	GM12878	blood:	n/a	chr1:151811998-151812009 chr1:151811997-151812010 chr1:151811906-151811919
6	ZBTB7A	chr1:151811800-151812706	ECC-1	luminal epithelium:	n/a	chr1:151811997-151812004
7	NR2F2	chr1:151811722-151813271	MCF-7	breast:	n/a	n/a
8	MAX	chr1:151811368-151813382	MCF-7	breast:	n/a	n/a
9	SIN3A	chr1:151810930-151812794	H1-hESC	embryonic stem cell:	n/a	chr1:151811550-151811563 chr1:151812644-151812657
10	RUNX3	chr1:151811779-151812015	GM12878	blood:	n/a	n/a
11	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
12	EBF1	chr1:151811709-151812603	GM12878	blood:	n/a	chr1:151811998-151812009 chr1:151811997-151812010 chr1:151811906-151811919

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
3	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
4	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
5	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
6	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
7	chr1:151811289..151813679-chr17:43235374..43237810,2	MCF-7	breast:
8	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
9	chr1:151542468..151544552-chr1:151811303..151812825,2	MCF-7	breast:
10	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
11	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
12	chr1:151810783..151812535-chr1:151860499..151863108,2	MCF-7	breast:
13	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
14	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
15	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
16	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000143375	Chromatin interaction
ENSG00000224505	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000207606	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10788810	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888438	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10888439	0.87[ASN][1000 genomes]
rs12029913	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12122596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130529	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6587622	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6667460	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7551806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
2	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:151810000-151818800	Weak transcription	A549	lung
5	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:151810400-151812400	Weak transcription	Hela-S3	cervix
9	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
11	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:151810400-151812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:151810400-151812800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr1:151810400-151813000	Active TSS	Brain Substantia Nigra	brain
19	chr1:151810600-151812000	Active TSS	Right Atrium	heart
20	chr1:151810600-151812600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:151810600-151813000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:151810600-151813000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:151810800-151812400	Active TSS	Esophagus	oesophagus
24	chr1:151810800-151813000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:151810800-151813200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr1:151810800-151813200	Flanking Active TSS	HMEC	breast
27	chr1:151811000-151812000	Weak transcription	HepG2	liver
28	chr1:151811000-151812400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:151811000-151812400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:151811000-151812400	Enhancers	Lung	lung
31	chr1:151811000-151812400	Enhancers	Small Intestine	intestine
32	chr1:151811000-151812600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr1:151811200-151812000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr1:151811200-151812000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr1:151811200-151812000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:151811200-151812000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:151811200-151812000	Bivalent Enhancer	Fetal Brain Male	brain
38	chr1:151811200-151812000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
39	chr1:151811200-151812200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:151811200-151812400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
41	chr1:151811200-151812600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr1:151811200-151812800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:151811200-151812800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:151811200-151813000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr1:151811200-151813000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr1:151811200-151813200	Bivalent Enhancer	Fetal Lung	lung
47	chr1:151811400-151812000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:151811400-151812000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
49	chr1:151811400-151812200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:151811400-151812200	Flanking Active TSS	Brain Anterior Caudate	brain

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