Variant report

Variant	rs6673556
Chromosome Location	chr1:151811226-151811227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr1:151810943-151811452	GM12878	blood:	n/a	chr1:151811210-151811219
2	GABPA	chr1:151811092-151811451	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr1:151811186-151811490	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr1:151810662-151811226	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:151810965-151813837	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZEB1	chr1:151811004-151811250	GM12878	blood:	n/a	chr1:151811210-151811219
7	BHLHE40	chr1:151810621-151811469	GM12878	blood:	n/a	n/a
8	BACH1	chr1:151811102-151811254	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr1:151811196-151811347	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr1:151811140-151811462	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr1:151810710-151811500	GM12878	blood:	n/a	n/a
12	TAF1	chr1:151811020-151811724	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr1:151810927-151811691	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr1:151810985-151811496	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr1:151810916-151811663	H1-hESC	embryonic stem cell:	n/a	chr1:151811542-151811551
17	POLR2A	chr1:151811102-151811312	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr1:151810520-151811502	GM12878	blood:	n/a	n/a
19	MAX	chr1:151810349-151811698	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF2	chr1:151811171-151811357	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:151811110-151811687	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr1:151811119-151811446	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF3	chr1:151810626-151811361	GM12878	blood:	n/a	n/a
24	PAX5	chr1:151810927-151811321	GM12892	blood:	n/a	n/a
25	SIN3A	chr1:151810930-151812794	H1-hESC	embryonic stem cell:	n/a	chr1:151811550-151811563 chr1:151812644-151812657
26	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
27	ELF1	chr1:151810413-151811645	GM12878	blood:	n/a	n/a
28	GABPA	chr1:151811124-151811526	H1-hESC	embryonic stem cell:	n/a	n/a
29	RCOR1	chr1:151810815-151811230	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

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	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
8	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
9	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
10	chr1:151810783..151812535-chr1:151860499..151863108,2	MCF-7	breast:
11	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
12	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
13	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
14	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
15	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
16	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
17	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000197747	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143436	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:151810000-151818800	Weak transcription	A549	lung
6	chr1:151810200-151811600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:151810400-151811400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:151810400-151811400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:151810400-151811400	Active TSS	Aorta	Aorta
13	chr1:151810400-151811400	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr1:151810400-151811600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151810400-151811600	Weak transcription	NHEK	skin
16	chr1:151810400-151811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:151810400-151812400	Weak transcription	Hela-S3	cervix
18	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
20	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:151810400-151812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:151810400-151812800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Thymus	Thymus
26	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr1:151810400-151813000	Active TSS	Brain Substantia Nigra	brain
28	chr1:151810600-151811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:151810600-151811400	Active TSS	Primary B cells from peripheral blood	blood
30	chr1:151810600-151811400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151810600-151811400	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:151810600-151811400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:151810600-151811400	Active TSS	Brain Anterior Caudate	brain
34	chr1:151810600-151811400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:151810600-151811400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr1:151810600-151811400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:151810600-151811400	Active TSS	Gastric	stomach
38	chr1:151810600-151811400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr1:151810600-151811600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:151810600-151811600	Active TSS	Ovary	ovary
41	chr1:151810600-151811800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr1:151810600-151811800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:151810600-151812000	Active TSS	Right Atrium	heart
44	chr1:151810600-151812600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:151810600-151813000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:151810600-151813000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:151810800-151811400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:151810800-151811400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:151810800-151811400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:151810800-151811400	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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