Variant report

Variant	rs4727561
Chromosome Location	chr7:102773990-102773991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102773371..102777248-chr7:102787778..102791965,5	K562	blood:
2	chr7:102761173..102767210-chr7:102768594..102775189,9	K562	blood:
3	chr7:102770229..102775157-chr7:102775428..102783246,10	K562	blood:

Variant related genes	Relation type
ENSG00000161048	Chromatin interaction
ENSG00000224415	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230292	1.00[EUR][1000 genomes]
rs10240086	1.00[EUR][1000 genomes]
rs10250825	1.00[MEX][hapmap]
rs10260344	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264869	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270034	1.00[MEX][hapmap]
rs10278727	1.00[MEX][hapmap]
rs10808121	1.00[MEX][hapmap]
rs10808123	1.00[EUR][1000 genomes]
rs10808124	1.00[EUR][1000 genomes]
rs10808125	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808126	0.87[AMR][1000 genomes]
rs10808127	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953379	0.83[AMR][1000 genomes]
rs11560367	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11760826	1.00[EUR][1000 genomes]
rs11765948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11772979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11773883	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981558	1.00[EUR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13226097	1.00[EUR][1000 genomes]
rs13242079	0.81[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13247932	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1404213	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1477159	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477160	1.00[MEX][hapmap];0.88[MKK][hapmap]
rs1477161	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477163	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1543987	1.00[MEX][hapmap]
rs1558853	1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	1.00[EUR][1000 genomes]
rs1861730	1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968199	0.88[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1974716	1.00[EUR][1000 genomes]
rs2015289	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041949	0.81[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[EUR][1000 genomes]
rs2098447	1.00[EUR][1000 genomes]
rs2111381	1.00[EUR][1000 genomes]
rs2140621	1.00[MEX][hapmap]
rs2177550	1.00[MEX][hapmap]
rs2193418	1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[EUR][1000 genomes]
rs2411078	0.82[AMR][1000 genomes]
rs2411079	1.00[EUR][1000 genomes]
rs2411081	1.00[EUR][1000 genomes]
rs2411082	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28881872	1.00[MEX][hapmap]
rs2898638	1.00[MEX][hapmap]
rs2898640	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181009	0.88[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4294127	0.83[AMR][1000 genomes]
rs4295594	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4374923	0.83[AMR][1000 genomes]
rs4530973	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4576360	1.00[MEX][hapmap]
rs4727558	1.00[MEX][hapmap]
rs4727560	1.00[EUR][1000 genomes]
rs4729868	1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	1.00[EUR][1000 genomes]
rs4729871	1.00[EUR][1000 genomes]
rs4729872	1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes]
rs4729875	1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729878	1.00[EUR][1000 genomes]
rs4729882	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][1000 genomes]
rs56938507	1.00[EUR][1000 genomes]
rs59179196	1.00[EUR][1000 genomes]
rs59182081	1.00[EUR][1000 genomes]
rs60006777	1.00[EUR][1000 genomes]
rs61187383	1.00[EUR][1000 genomes]
rs62622397	1.00[EUR][1000 genomes]
rs6465888	1.00[MEX][hapmap]
rs6465890	1.00[MEX][hapmap]
rs6465891	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465892	1.00[EUR][1000 genomes]
rs6465893	0.87[AMR][1000 genomes]
rs6465898	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465899	1.00[AFR][1000 genomes]
rs6465901	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6465902	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465905	1.00[EUR][1000 genomes]
rs6465907	1.00[EUR][1000 genomes]
rs6465911	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946989	1.00[EUR][1000 genomes]
rs6947777	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950177	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6955436	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959711	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964717	0.98[AFR][1000 genomes]
rs6964822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6966872	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs6966961	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973702	1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[EUR][1000 genomes]
rs6973787	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976034	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976290	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976794	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977206	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979140	1.00[EUR][1000 genomes]
rs6979470	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408251	1.00[EUR][1000 genomes]
rs73408254	1.00[EUR][1000 genomes]
rs73408255	1.00[EUR][1000 genomes]
rs73408259	1.00[EUR][1000 genomes]
rs73408285	1.00[EUR][1000 genomes]
rs73408286	1.00[EUR][1000 genomes]
rs73410119	1.00[EUR][1000 genomes]
rs73410129	1.00[EUR][1000 genomes]
rs73410143	1.00[EUR][1000 genomes]
rs73412168	1.00[EUR][1000 genomes]
rs73412171	1.00[EUR][1000 genomes]
rs73412175	1.00[EUR][1000 genomes]
rs7341515	1.00[MEX][hapmap]
rs7349957	1.00[EUR][1000 genomes]
rs7350051	1.00[EUR][1000 genomes]
rs7782147	1.00[EUR][1000 genomes]
rs7783856	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7784337	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7792240	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801969	0.83[AMR][1000 genomes]
rs7805950	1.00[MEX][hapmap]
rs7806136	1.00[MEX][hapmap]
rs7806691	1.00[MEX][hapmap]
rs7807900	1.00[EUR][1000 genomes]
rs7809075	1.00[MEX][hapmap]
rs7811224	1.00[EUR][1000 genomes]
rs952521	0.86[AFR][1000 genomes]
rs9640672	1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	1.00[EUR][1000 genomes]
rs9691829	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102747400-102781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102747600-102775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:102747600-102789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:102755600-102775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:102760600-102782000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:102760600-102782200	Weak transcription	HSMM	muscle
7	chr7:102764000-102781800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:102764200-102787000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:102767200-102786000	Weak transcription	GM12878-XiMat	blood
10	chr7:102768600-102774200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:102768800-102775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:102768800-102775600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:102768800-102775800	Weak transcription	Gastric	stomach
14	chr7:102768800-102781800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:102768800-102782000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:102768800-102782000	Weak transcription	Pancreas	Pancrea
17	chr7:102768800-102786000	Weak transcription	Brain Germinal Matrix	brain
18	chr7:102768800-102786200	Weak transcription	Fetal Heart	heart
19	chr7:102768800-102786600	Weak transcription	Lung	lung
20	chr7:102768800-102788600	Weak transcription	Right Ventricle	heart
21	chr7:102769000-102774200	Weak transcription	NH-A	brain
22	chr7:102769000-102775200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:102769000-102775200	Weak transcription	NHDF-Ad	bronchial
24	chr7:102769000-102775400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:102769000-102775400	Weak transcription	Fetal Brain Female	brain
26	chr7:102769000-102775800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:102769000-102775800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:102769000-102781400	Weak transcription	Dnd41	blood
29	chr7:102769000-102782000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:102769000-102786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:102769000-102786000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:102769000-102786000	Weak transcription	Fetal Brain Male	brain
33	chr7:102769000-102786600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:102769000-102786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:102769000-102787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:102769200-102775200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:102769200-102775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:102769200-102775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:102769200-102775400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:102769200-102775600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:102769200-102775800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:102769200-102781200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:102769200-102781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:102769200-102781800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:102769200-102781800	Weak transcription	Fetal Thymus	thymus
46	chr7:102769200-102786000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:102769200-102786600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:102769200-102786800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:102769200-102787000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:102769200-102787000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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