Variant report

Variant	rs10250517
Chromosome Location	chr7:21487150-21487151
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	chr7:21467774..21470403-chr7:21485720..21488504,2	K562	blood:

Variant related genes	Relation type
ENSG00000105866	Chromatin interaction

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	1.00[YRI][hapmap];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[YRI][hapmap];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	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238881	0.89[YRI][hapmap];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]
rs10252594	1.00[EUR][1000 genomes]
rs10253281	0.81[AFR][1000 genomes]
rs10254442	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254858	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255890	1.00[YRI][hapmap];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265366	1.00[EUR][1000 genomes]
rs10268107	0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10274755	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10275955	1.00[YRI][hapmap];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[YRI][hapmap];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	1.00[YRI][hapmap];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]
rs73685131	1.00[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	1.00[YRI][hapmap];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	nsv971483	chr7:21479694-21488485	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:21468600-21488600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:21468800-21489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:21468800-21493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:21470000-21488600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:21470000-21490400	Weak transcription	Fetal Kidney	kidney
9	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:21470200-21488600	Weak transcription	Gastric	stomach
11	chr7:21470200-21490600	Weak transcription	Psoas Muscle	Psoas
12	chr7:21470200-21494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:21470400-21488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:21470400-21490600	Weak transcription	Pancreas	Pancrea
15	chr7:21470400-21494600	Weak transcription	Fetal Stomach	stomach
16	chr7:21470400-21516600	Weak transcription	Liver	Liver
17	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
18	chr7:21470600-21490800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:21471600-21488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:21472000-21487200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:21472000-21488600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:21472000-21488800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:21472000-21489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:21472800-21488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:21472800-21488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:21472800-21488600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:21472800-21490400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:21472800-21490400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:21472800-21490600	Weak transcription	Left Ventricle	heart
32	chr7:21472800-21490600	Weak transcription	Lung	lung
33	chr7:21472800-21492000	Weak transcription	Small Intestine	intestine
34	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
35	chr7:21473200-21488400	Weak transcription	Dnd41	blood
36	chr7:21473600-21489600	Weak transcription	Fetal Brain Male	brain
37	chr7:21474200-21493400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:21476200-21493200	Weak transcription	Brain Anterior Caudate	brain
41	chr7:21476400-21492400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:21477400-21488400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:21479000-21488600	Weak transcription	Fetal Intestine Small	intestine
44	chr7:21480800-21490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:21481000-21490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:21483400-21487400	Strong transcription	GM12878-XiMat	blood
47	chr7:21483600-21487200	Strong transcription	Primary B cells from cord blood	blood
48	chr7:21483600-21488400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:21484000-21488400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:21484000-21493600	Weak transcription	Fetal Lung	lung

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