Variant report

Variant	rs41275982
Chromosome Location	chr7:26237238-26237239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

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	chr7:26237178-26237584	K562	blood:	n/a	n/a
3	POLR2A	chr7:26234765-26237399	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:26221696-26237480	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:26234743-26243058	K562	blood:	n/a	n/a
6	POLR2A	chr7:26225813-26242266	Hela-S3	cervix:	n/a	n/a
7	TAF7	chr7:26236676-26237633	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:26234771-26237585	U87	brain:	n/a	n/a
9	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
10	HEY1	chr7:26235885-26237530	K562	blood:	n/a	n/a
11	STAT1	chr7:26236747-26237436	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:26237160-26237453	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr7:26237134-26237472	GM12878	blood:	n/a	n/a
14	STAT3	chr7:26237193-26237357	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:26236324-26237510	GM12892	blood:	n/a	n/a
16	NFIC	chr7:26236838-26237567	GM12878	blood:	n/a	n/a
17	ATF2	chr7:26236836-26237454	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr7:26236872-26241567	K562	blood:	n/a	n/a
19	POLR2A	chr7:26231544-26237489	GM12892	blood:	n/a	n/a
20	POLR2A	chr7:26236346-26237382	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:26217417-26242495	GM12878	blood:	n/a	n/a
22	BHLHE40	chr7:26236629-26237507	GM12878	blood:	n/a	n/a
23	CTCF	chr7:26237207-26237297	Spleen_OC	spleen:	n/a	n/a
24	POLR2A	chr7:26229791-26237535	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:26236801-26237413	GM12891	blood:	n/a	n/a
26	TBP	chr7:26236965-26237474	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:26236343-26237346	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr7:26233946-26237633	SK-N-SH	brain:	n/a	n/a
29	MXI1	chr7:26236746-26242422	K562	blood:	n/a	n/a
30	BCLAF1	chr7:26236532-26237586	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:26235857-26241978	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr7:26219147-26241658	K562	blood:	n/a	n/a
33	POLR2A	chr7:26222589-26243037	K562	blood:	n/a	n/a
34	RUNX3	chr7:26236929-26237518	GM12878	blood:	n/a	n/a
35	NFYB	chr7:26237188-26237451	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:26236807-26237249	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:26234765-26237545	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr7:26236764-26237453	PFSK-1	brain:	n/a	n/a
39	RUNX3	chr7:26236841-26237446	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:26235298-26237270	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:26221760-26237544	A549	lung:	n/a	n/a
42	POLR2A	chr7:26225919-26237367	K562	blood:	n/a	n/a
43	SPI1	chr7:26237181-26237436	GM12891	blood:	n/a	n/a
44	MAFK	chr7:26237133-26237257	H1-hESC	embryonic stem cell:	n/a	n/a
45	REST	chr7:26237116-26237374	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr7:26217906-26237432	Hela-S3	cervix:	n/a	n/a
47	NFATC1	chr7:26236829-26237506	GM12878	blood:	n/a	n/a
48	EP300	chr7:26237131-26241553	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:26236533-26237506	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:26234641-26237639	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26124079..26126684-chr7:26237086..26240273,4	MCF-7	breast:
2	chr7:26172376..26175149-chr7:26236587..26238736,2	MCF-7	breast:
3	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
4	chr7:26237070..26238753-chr7:26328239..26331209,2	MCF-7	breast:

No data

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11971108	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	0.84[EUR][1000 genomes]
rs11977822	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	0.85[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]
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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	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	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	chr7:26232000-26237600	Genic enhancers	Fetal Heart	heart
4	chr7:26232400-26237400	Transcr. at gene 5' and 3'	A549	lung
5	chr7:26233200-26239600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:26234000-26237600	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:26234200-26240400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
9	chr7:26234400-26237600	Strong transcription	Placenta	Placenta
10	chr7:26234400-26238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:26234600-26237400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr7:26234600-26238200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:26234600-26238200	Weak transcription	Gastric	stomach
14	chr7:26234800-26237400	Transcr. at gene 5' and 3'	NHLF	lung
15	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:26234800-26237600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:26234800-26239200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
18	chr7:26234800-26239400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
19	chr7:26234800-26239400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:26234800-26240000	Active TSS	Right Atrium	heart
21	chr7:26234800-26240200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
22	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
23	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:26235000-26237400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
25	chr7:26235000-26237400	Transcr. at gene 5' and 3'	HMEC	breast
26	chr7:26235000-26238200	Weak transcription	Small Intestine	intestine
27	chr7:26235000-26239400	Transcr. at gene 5' and 3'	K562	blood
28	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
29	chr7:26235000-26239600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
30	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr7:26235400-26237400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
33	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:26235400-26237600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:26235600-26237400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:26235600-26237400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
37	chr7:26235600-26237400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
38	chr7:26235600-26238400	Weak transcription	Spleen	Spleen
39	chr7:26235600-26239400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
40	chr7:26235800-26237400	Transcr. at gene 5' and 3'	HepG2	liver
41	chr7:26236000-26237400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:26236000-26237400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:26236000-26237400	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
44	chr7:26236000-26237400	Transcr. at gene 5' and 3'	NH-A	brain
45	chr7:26236000-26237400	Transcr. at gene 5' and 3'	NHEK	skin
46	chr7:26236000-26237600	Transcr. at gene 5' and 3'	Hela-S3	cervix
47	chr7:26236000-26238200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:26236000-26239200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:26236000-26239400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived

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