Variant report

Variant	rs73685131
Chromosome Location	chr7:21494716-21494717
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21475451..21478627-chr7:21492738..21495662,4	K562	blood:
2	chr7:21482757..21484711-chr7:21494486..21496179,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10046561	1.00[EUR][1000 genomes]
rs10216269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10228982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232146	1.00[EUR][1000 genomes]
rs10233925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252594	1.00[EUR][1000 genomes]
rs10253281	0.81[AFR][1000 genomes]
rs10254442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255890	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265366	1.00[EUR][1000 genomes]
rs10268107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10274755	0.96[AFR][1000 genomes]
rs10275955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279096	1.00[EUR][1000 genomes]
rs10282629	1.00[EUR][1000 genomes]
rs12674126	1.00[AMR][1000 genomes]
rs2158415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2285941	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28419471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439880	1.00[EUR][1000 genomes]
rs28490171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28646037	1.00[EUR][1000 genomes]
rs28657649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661383	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55645999	1.00[EUR][1000 genomes]
rs55840028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55879742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55908918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57142662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57213984	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58223300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61043546	0.96[AFR][1000 genomes]
rs6946711	0.96[AFR][1000 genomes]
rs6947378	0.96[AFR][1000 genomes]
rs6953601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6972886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682368	1.00[EUR][1000 genomes]
rs73682608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685129	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73685130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:21470400-21516600	Weak transcription	Liver	Liver
5	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
6	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
9	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:21485400-21495200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
13	chr7:21487600-21498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:21488200-21495800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:21489000-21495400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:21489800-21496600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr7:21489800-21496600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:21489800-21497000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr7:21490200-21499000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:21490400-21494800	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr7:21490400-21496200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr7:21490400-21496400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:21490400-21496800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:21490400-21497600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr7:21490600-21495800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
28	chr7:21491200-21495400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:21491200-21496000	Weak transcription	HSMMtube	muscle
30	chr7:21491200-21497800	Weak transcription	Pancreas	Pancrea
31	chr7:21491400-21503000	Weak transcription	Gastric	stomach
32	chr7:21491600-21496400	Weak transcription	Lung	lung
33	chr7:21491800-21502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
35	chr7:21492800-21495000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr7:21492800-21495000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr7:21492800-21497400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:21492800-21497600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr7:21493000-21495400	ZNF genes & repeats	Dnd41	blood
40	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
41	chr7:21493200-21495200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:21493600-21494800	ZNF genes & repeats	Fetal Thymus	thymus
43	chr7:21493600-21495200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:21493600-21496600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:21493800-21495200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr7:21493800-21495400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:21493800-21495800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr7:21493800-21496600	Strong transcription	Thymus	Thymus
49	chr7:21493800-21497200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain

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