Variant report

Variant	rs11983124
Chromosome Location	chr7:71564254-71564255
allele	A/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	REST	chr7:71563682-71564288	SK-N-SH	brain:	n/a	n/a
2	EP300	chr7:71563572-71564280	SK-N-SH_RA	brain:	n/a	n/a
3	TCF12	chr7:71563686-71564306	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr7:71563690-71564444	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr7:71563704-71564260	SK-N-SH_RA	brain:	n/a	chr7:71563863-71563873 chr7:71564164-71564176
6	EP300	chr7:71563676-71564296	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71549650..71551366-chr7:71562854..71564713,2	K562	blood:

Variant related genes	Relation type
ABCF2P2	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10215588	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10231333	0.91[JPT][hapmap]
rs10251441	0.83[JPT][hapmap]
rs10252717	0.90[JPT][hapmap]
rs10254309	0.91[JPT][hapmap]
rs10255136	0.91[JPT][hapmap]
rs10260183	0.91[JPT][hapmap]
rs10260420	0.91[JPT][hapmap]
rs10260767	0.91[JPT][hapmap]
rs10281262	0.91[JPT][hapmap]
rs10807742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10807744	1.00[JPT][hapmap]
rs10950291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10950294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10950295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10950297	0.91[JPT][hapmap]
rs10950298	0.91[JPT][hapmap]
rs11760663	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs11765179	0.83[JPT][hapmap]
rs11772246	1.00[JPT][hapmap]
rs11972568	0.91[JPT][hapmap]
rs11975544	1.00[YRI][hapmap]
rs11982267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12531663	0.88[JPT][hapmap]
rs12538529	0.91[JPT][hapmap]
rs12666578	0.91[JPT][hapmap]
rs12673109	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs13224539	0.91[JPT][hapmap]
rs13239589	0.91[JPT][hapmap]
rs17144357	0.90[JPT][hapmap]
rs2040869	0.91[JPT][hapmap]
rs2867567	0.91[JPT][hapmap]
rs34655504	0.83[JPT][hapmap]
rs34801868	0.83[JPT][hapmap]
rs4457209	0.91[JPT][hapmap]
rs4717628	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs4719207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4719209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4719216	1.00[JPT][hapmap]
rs6952558	1.00[JPT][hapmap]
rs6959686	0.91[JPT][hapmap]
rs6963114	0.91[JPT][hapmap]
rs7797796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7799436	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv831023	chr7:71443549-71588033	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv531373	chr7:71487076-71765613	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1015848	chr7:71552185-71736068	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv538942	chr7:71552185-71736068	ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71558400-71572800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71559000-71571400	Strong transcription	Fetal Thymus	thymus
3	chr7:71561200-71573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:71561600-71568800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71561600-71570800	Weak transcription	Pancreas	Pancrea
6	chr7:71563400-71564400	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:71563400-71565200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:71563800-71564600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:71563800-71564800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:71564000-71564400	Enhancers	Brain Anterior Caudate	brain
11	chr7:71564000-71564800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:71564000-71564800	Flanking Active TSS	NHDF-Ad	bronchial
13	chr7:71564000-71564800	Flanking Active TSS	Osteobl	bone
14	chr7:71564000-71566000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:71564200-71564600	Enhancers	HSMM	muscle
16	chr7:71564200-71564800	Enhancers	NH-A	brain
17	chr7:71564200-71565000	Enhancers	Adipose Nuclei	Adipose
18	chr7:71564200-71568000	Weak transcription	Thymus	Thymus

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