Variant report

Variant	rs4721671
Chromosome Location	chr7:17978520-17978521
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17966773..17969755-chr7:17976526..17979737,3	K562	blood:
2	chr7:17936656..17938399-chr7:17976811..17978659,2	K562	blood:
3	chr7:17967526..17969640-chr7:17977395..17979886,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10216315	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10227224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10227501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10227582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10231926	0.93[ASN][1000 genomes]
rs10233816	0.86[JPT][hapmap]
rs10265373	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11768866	0.91[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs11973277	0.86[JPT][hapmap]
rs11983260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12699918	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12699919	0.86[JPT][hapmap]
rs1357796	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1404424	0.83[ASN][1000 genomes]
rs1464804	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1524775	0.85[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1524776	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1568815	0.94[ASN][1000 genomes]
rs1568817	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1568818	0.93[ASN][1000 genomes]
rs2103144	0.84[ASN][1000 genomes]
rs2177652	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2691555	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691557	0.83[ASN][1000 genomes]
rs2691558	0.93[ASN][1000 genomes]
rs2691559	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2691560	0.94[ASN][1000 genomes]
rs2691561	0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2691562	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2691563	0.94[ASN][1000 genomes]
rs2691564	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2691565	0.82[ASN][1000 genomes]
rs2691566	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2691567	0.92[ASN][1000 genomes]
rs2691568	0.94[ASN][1000 genomes]
rs2691569	0.94[ASN][1000 genomes]
rs2691570	0.89[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2691571	0.94[ASN][1000 genomes]
rs2691572	0.86[JPT][hapmap]
rs2691574	0.85[JPT][hapmap]
rs2691576	0.86[JPT][hapmap]
rs2691577	0.89[ASN][1000 genomes]
rs2691578	0.89[ASN][1000 genomes]
rs2691579	0.88[ASN][1000 genomes]
rs2691580	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2691600	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2691609	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2691611	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2691612	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2691615	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2714854	0.86[JPT][hapmap]
rs2714855	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2714857	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2714858	0.86[JPT][hapmap]
rs2714859	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2714860	0.94[ASN][1000 genomes]
rs2714861	0.94[ASN][1000 genomes]
rs2714863	0.93[ASN][1000 genomes]
rs2714864	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2714865	0.94[ASN][1000 genomes]
rs2714866	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2714867	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2714868	0.89[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2714869	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2714870	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2714871	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2714872	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs2714878	0.81[CHB][hapmap]
rs2723540	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs35819944	0.83[ASN][1000 genomes]
rs4532510	0.83[ASN][1000 genomes]
rs4543433	0.91[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4719525	0.97[ASN][1000 genomes]
rs56287412	0.85[ASN][1000 genomes]
rs6952907	0.86[JPT][hapmap]
rs6955984	0.89[ASN][1000 genomes]
rs6962380	0.86[JPT][hapmap]
rs6973480	0.82[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7802343	0.86[JPT][hapmap]
rs9942602	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1022746	chr7:17978103-18233458	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
3	chr7:17967200-17978800	Weak transcription	Lung	lung
4	chr7:17970600-17978800	Weak transcription	Pancreas	Pancrea
5	chr7:17970800-17978600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:17970800-17978800	Weak transcription	Gastric	stomach
7	chr7:17973200-17978800	Weak transcription	Spleen	Spleen
8	chr7:17974200-17978600	Weak transcription	Fetal Thymus	thymus
9	chr7:17975000-17978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:17975600-17978800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:17975800-17978600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:17976400-17978600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:17976800-17978600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:17977000-17978600	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:17977000-17978600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:17977000-17978600	Enhancers	Fetal Lung	lung
17	chr7:17977200-17978600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:17977200-17978800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:17977200-17979400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:17977200-17981400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:17977400-17978600	Enhancers	Fetal Brain Male	brain
22	chr7:17977400-17978600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:17977400-17978600	Flanking Active TSS	NHEK	skin
24	chr7:17977400-17978600	Flanking Active TSS	Osteobl	bone
25	chr7:17977400-17978800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:17977400-17978800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:17977400-17978800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:17977400-17979200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:17977400-17979200	Enhancers	Small Intestine	intestine
30	chr7:17977400-17979400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:17977400-17979400	Flanking Active TSS	Dnd41	blood
32	chr7:17977400-17979800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:17977400-17980000	Active TSS	Right Atrium	heart
34	chr7:17977400-17980600	Active TSS	NHLF	lung
35	chr7:17977600-17978600	Weak transcription	HSMM	muscle
36	chr7:17977600-17979200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr7:17977600-17979400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:17977600-17980800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:17977600-17981200	Active TSS	Right Ventricle	heart
40	chr7:17977800-17978600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:17977800-17978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:17977800-17978600	Enhancers	Fetal Muscle Leg	muscle
43	chr7:17977800-17978800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:17977800-17978800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr7:17977800-17979200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr7:17977800-17979200	Flanking Active TSS	NH-A	brain
47	chr7:17977800-17979400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr7:17977800-17979400	Flanking Active TSS	Liver	Liver
49	chr7:17977800-17980800	Active TSS	GM12878-XiMat	blood
50	chr7:17977800-17981200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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