Variant report

Variant	rs6946989
Chromosome Location	chr7:102728085-102728086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
2	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230292	1.00[EUR][1000 genomes]
rs10240086	1.00[EUR][1000 genomes]
rs10260344	1.00[EUR][1000 genomes]
rs10264869	1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	1.00[EUR][1000 genomes]
rs10808122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808124	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808125	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808126	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10808127	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953378	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10953379	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11560367	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11760826	1.00[EUR][1000 genomes]
rs11765948	1.00[EUR][1000 genomes]
rs11772979	1.00[EUR][1000 genomes]
rs11773883	1.00[EUR][1000 genomes]
rs11981558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13226097	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13242079	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13247932	1.00[EUR][1000 genomes]
rs1404213	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	1.00[EUR][1000 genomes]
rs1477163	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1558853	1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968199	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1974716	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2015289	1.00[EUR][1000 genomes]
rs2041949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098447	1.00[EUR][1000 genomes]
rs2111381	1.00[EUR][1000 genomes]
rs2193418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes]
rs2898640	1.00[EUR][1000 genomes]
rs3181009	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4294127	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4295594	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4374923	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4440560	0.85[AFR][1000 genomes]
rs4530973	1.00[EUR][1000 genomes]
rs4727560	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727561	1.00[EUR][1000 genomes]
rs4729868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729872	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729874	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4729875	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729877	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4729878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729879	0.82[AFR][1000 genomes]
rs4729882	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][1000 genomes]
rs56938507	1.00[EUR][1000 genomes]
rs59182081	1.00[EUR][1000 genomes]
rs61187383	1.00[EUR][1000 genomes]
rs61676871	1.00[EUR][1000 genomes]
rs62622397	1.00[EUR][1000 genomes]
rs6465890	0.91[AFR][1000 genomes]
rs6465891	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465892	1.00[EUR][1000 genomes]
rs6465893	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6465898	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465905	1.00[EUR][1000 genomes]
rs6465907	1.00[EUR][1000 genomes]
rs6465911	1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955436	1.00[EUR][1000 genomes]
rs6959711	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964822	1.00[EUR][1000 genomes]
rs6966872	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6966961	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968559	1.00[EUR][1000 genomes]
rs6973702	1.00[EUR][1000 genomes]
rs6973787	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976034	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6976794	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977206	1.00[EUR][1000 genomes]
rs6979140	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979470	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408205	1.00[EUR][1000 genomes]
rs73408207	1.00[EUR][1000 genomes]
rs73408209	1.00[EUR][1000 genomes]
rs73408210	1.00[EUR][1000 genomes]
rs73408223	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]
rs7349957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7350051	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7782147	1.00[EUR][1000 genomes]
rs7783856	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784337	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792240	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801969	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7807900	1.00[EUR][1000 genomes]
rs7811224	1.00[EUR][1000 genomes]
rs9640672	1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	1.00[EUR][1000 genomes]
rs9649256	0.84[AFR][1000 genomes]
rs9691829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102716400-102734000	Weak transcription	Esophagus	oesophagus
2	chr7:102716400-102745400	Weak transcription	Spleen	Spleen
3	chr7:102716600-102735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:102716600-102737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
8	chr7:102716600-102760200	Weak transcription	Lung	lung
9	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
10	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
11	chr7:102716800-102753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:102716800-102768400	Weak transcription	Stomach Mucosa	stomach
13	chr7:102717000-102729400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:102717000-102729600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:102717000-102729600	Weak transcription	NHLF	lung
16	chr7:102717000-102746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:102717000-102746800	Weak transcription	Fetal Heart	heart
18	chr7:102717600-102738600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:102717600-102770200	Weak transcription	Small Intestine	intestine
20	chr7:102717800-102728600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:102717800-102768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:102718200-102729800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:102719400-102769600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:102722200-102738600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:102722600-102738600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:102723000-102731000	Strong transcription	K562	blood
27	chr7:102723000-102738200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:102723200-102728200	Strong transcription	HSMM	muscle
29	chr7:102723200-102729200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr7:102723400-102732200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:102723400-102734000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:102723400-102734200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:102723400-102738600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:102723400-102738600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:102723400-102746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:102723600-102730400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:102723600-102731000	Strong transcription	A549	lung
38	chr7:102723600-102732400	Strong transcription	Liver	Liver
39	chr7:102723600-102734200	Strong transcription	Placenta	Placenta
40	chr7:102723600-102734600	Strong transcription	Fetal Intestine Large	intestine
41	chr7:102723600-102738600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:102723600-102746400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:102723800-102729800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:102723800-102730600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:102723800-102732600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:102723800-102738600	Strong transcription	Fetal Thymus	thymus
47	chr7:102724000-102728800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:102724000-102729600	Strong transcription	Osteobl	bone
49	chr7:102724000-102730200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:102724000-102730600	Strong transcription	Primary T cells from cord blood	blood

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