Variant report

Variant	rs11971308
Chromosome Location	chr7:26237609-26237610
allele	A/C
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:13)
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	POLR2A	chr7:26231477-26237614	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
3	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
4	TAF7	chr7:26236676-26237633	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
6	ELK1	chr7:26237400-26238796	K562	blood:	n/a	n/a
7	TBL1XR1	chr7:26236872-26241567	K562	blood:	n/a	n/a
8	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:26237607-26238335	K562	blood:	n/a	n/a
10	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
11	MXI1	chr7:26236746-26242422	K562	blood:	n/a	n/a
12	POLR2A	chr7:26235857-26241978	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
14	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
15	EP300	chr7:26237131-26241553	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:26234641-26237639	U87	brain:	n/a	n/a
17	SMC3	chr7:26237501-26238343	GM12878	blood:	n/a	n/a
18	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr7:26225898-26242757	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr7:26237436-26238218	K562	blood:	n/a	n/a
22	POLR2A	chr7:26221753-26237645	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:26234750-26237667	PANC-1	pancreas:	n/a	n/a
24	ARID3A	chr7:26237364-26238112	HepG2	liver:	n/a	n/a
25	TBL1XR1	chr7:26236844-26242113	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:26234715-26237645	U87	brain:	n/a	n/a
27	CUX1	chr7:26236765-26237906	GM12878	blood:	n/a	n/a
28	CTCF	chr7:26237520-26237670	AG04450	lung:	n/a	n/a
29	MYC	chr7:26237596-26238390	MCF10A-Er-Src	breast:	n/a	chr7:26238200-26238210

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
2	chr7:26185994..26190276-chr7:26237355..26239722,4	K562	blood:
3	chr7:25897759..25900219-chr7:26237473..26240299,2	MCF-7	breast:
4	chr7:26172376..26175149-chr7:26236587..26238736,2	MCF-7	breast:
5	chr7:26237378..26238939-chr7:26305389..26307516,2	K562	blood:
6	chr10:90595173..90596030-chr7:26237548..26238302,2	MCF-7	breast:
7	chr7:26206391..26208295-chr7:26237571..26240360,2	MCF-7	breast:
8	chr7:26121029..26121778-chr7:26237338..26237969,2	MCF-7	breast:
9	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
10	chr7:26237070..26238753-chr7:26328239..26331209,2	MCF-7	breast:
11	chr7:26184609..26187599-chr7:26237249..26239086,2	K562	blood:
12	chr11:76155248..76156126-chr7:26237373..26238334,2	Hela-S3	cervix:
13	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000158636	Chromatin interaction
ENSG00000255135	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11971108	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971402	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972057	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11975011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976883	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11977822	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531642	1.00[CEU][hapmap]
rs12535874	0.82[CEU][hapmap]
rs17153176	1.00[CEU][hapmap]
rs17153183	1.00[CEU][hapmap]
rs17153193	1.00[CEU][hapmap]
rs17153217	0.82[CEU][hapmap]
rs17321514	1.00[ASN][1000 genomes]
rs17322608	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs28409739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56021640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132015	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376224	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393994	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59142558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59371106	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60411547	1.00[AMR][1000 genomes]
rs60954252	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61009175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945071	0.82[CEU][hapmap]
rs6948113	1.00[ASN][1000 genomes]
rs73279689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279692	1.00[ASN][1000 genomes]
rs73281517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281550	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281562	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281578	0.89[EUR][1000 genomes]
rs73281586	0.89[EUR][1000 genomes]
rs73281591	0.89[EUR][1000 genomes]
rs7793815	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7798249	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26231600-26239600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr7:26231800-26239600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:26234600-26238200	Weak transcription	Gastric	stomach
9	chr7:26234800-26239200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
10	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
11	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:26234800-26240000	Active TSS	Right Atrium	heart
13	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
14	chr7:26235000-26238200	Weak transcription	Small Intestine	intestine
15	chr7:26235000-26239400	Transcr. at gene 5' and 3'	K562	blood
16	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
17	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr7:26235600-26238400	Weak transcription	Spleen	Spleen
19	chr7:26235600-26239400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
20	chr7:26236000-26238200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:26236000-26239200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
22	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:26236000-26239400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:26236200-26238000	Weak transcription	Lung	lung
26	chr7:26236200-26238200	Weak transcription	Esophagus	oesophagus
27	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:26236400-26239200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
29	chr7:26236600-26239000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:26236600-26239000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
31	chr7:26236600-26239400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
32	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
33	chr7:26236800-26239400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
34	chr7:26236800-26239400	Transcr. at gene 5' and 3'	Fetal Lung	lung
35	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:26237000-26238200	Weak transcription	Pancreas	Pancrea
37	chr7:26237000-26243000	Active TSS	Ovary	ovary
38	chr7:26237000-26243600	Active TSS	Aorta	Aorta
39	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:26237200-26237800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr7:26237200-26237800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:26237200-26237800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:26237200-26238000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:26237200-26238000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:26237200-26238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:26237200-26238200	Active TSS	GM12878-XiMat	blood
48	chr7:26237200-26238400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:26237200-26239200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:26237200-26242200	Active TSS	Monocytes-CD14+_RO01746	blood

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