Variant report

Variant	rs2041049
Chromosome Location	chr7:87537177-87537178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87505665..87507649-chr7:87536982..87538921,2	K562	blood:
2	chr7:87534939..87537364-chr7:87538795..87541738,4	K562	blood:

Variant related genes	Relation type
ENSG00000075303	Chromatin interaction
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10215700	0.95[ASN][1000 genomes]
rs10215973	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10216040	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10225955	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10230718	0.95[ASN][1000 genomes]
rs10231094	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10232449	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10235112	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10235854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10239922	0.95[ASN][1000 genomes]
rs10244734	0.95[ASN][1000 genomes]
rs10245617	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10245767	0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.95[ASN][1000 genomes]
rs10247258	0.91[ASN][1000 genomes]
rs10248345	0.88[ASN][1000 genomes]
rs10249603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10252226	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10253864	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10255051	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10256319	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10258021	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10259182	0.91[ASN][1000 genomes]
rs10261685	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10263074	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10263159	0.89[YRI][hapmap]
rs10264991	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266417	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10268868	0.95[ASN][1000 genomes]
rs10269158	0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10275831	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10276409	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10278483	0.86[ASN][1000 genomes]
rs10280397	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10280904	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10281645	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10486997	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10487000	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11972683	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11982729	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532279	0.91[ASN][1000 genomes]
rs12532358	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533477	0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12535013	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537294	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12538627	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13437761	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13438341	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17149864	0.86[ASN][1000 genomes]
rs17149924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17149946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17149963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17150006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17150008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17169578	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2106522	0.84[ASN][1000 genomes]
rs2188523	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2373574	0.91[ASN][1000 genomes]
rs28375568	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28379741	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28452149	0.95[AFR][1000 genomes]
rs28470575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28535601	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28535947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28537604	0.95[ASN][1000 genomes]
rs28546778	0.95[ASN][1000 genomes]
rs28572147	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28624877	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28627774	0.95[ASN][1000 genomes]
rs28666506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28742881	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28774398	0.91[ASN][1000 genomes]
rs28827241	0.95[AFR][1000 genomes]
rs28847692	0.95[AFR][1000 genomes]
rs28879532	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28890472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148727	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6465117	0.84[ASN][1000 genomes]
rs6948061	0.95[ASN][1000 genomes]
rs6952943	0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6955897	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794263	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9655953	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9655954	0.95[ASN][1000 genomes]
rs976602	0.91[ASN][1000 genomes]
rs9986978	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87506600-87539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:87506600-87539600	Weak transcription	Pancreas	Pancrea
3	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:87507200-87538400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:87507200-87539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:87507600-87539400	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:87508000-87537400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:87508000-87538200	Weak transcription	Thymus	Thymus
9	chr7:87508200-87537400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:87508200-87538400	Weak transcription	Fetal Brain Female	brain
11	chr7:87508200-87538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:87508200-87539000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:87508200-87539200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:87508200-87539400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:87508200-87539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:87508600-87538600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:87508800-87538000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:87510400-87538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:87511800-87537400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:87512800-87537400	Strong transcription	Dnd41	blood
21	chr7:87513600-87538000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:87515200-87538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:87515200-87538600	Weak transcription	Fetal Kidney	kidney
24	chr7:87516600-87539600	Weak transcription	Spleen	Spleen
25	chr7:87517600-87538600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:87521400-87537400	Strong transcription	K562	blood
27	chr7:87522000-87538600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:87522800-87538600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:87523400-87538600	Strong transcription	Fetal Thymus	thymus
30	chr7:87525000-87538400	Weak transcription	NHLF	lung
31	chr7:87525400-87537400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:87526800-87538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:87527600-87538400	Weak transcription	Liver	Liver
34	chr7:87528600-87537600	Weak transcription	Osteobl	bone
35	chr7:87528600-87538600	Weak transcription	Fetal Lung	lung
36	chr7:87529200-87538200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:87529200-87538600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:87529200-87540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:87529400-87547800	Weak transcription	NHEK	skin
40	chr7:87530200-87540200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:87530600-87537200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:87530600-87537400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr7:87532400-87537400	Strong transcription	GM12878-XiMat	blood
44	chr7:87532400-87540000	Weak transcription	Primary B cells from cord blood	blood
45	chr7:87532600-87541600	Weak transcription	HUVEC	blood vessel
46	chr7:87533200-87539800	Weak transcription	Fetal Stomach	stomach
47	chr7:87534200-87538400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:87534400-87541800	Weak transcription	Fetal Intestine Small	intestine
49	chr7:87534600-87540000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:87535000-87538600	Weak transcription	Primary B cells from peripheral blood	blood

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