Variant report

Variant	rs1013002
Chromosome Location	chr7:7624585-7624586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7615235..7617225-chr7:7623771..7626180,2	K562	blood:
2	chr7:7622864..7625545-chr7:7678523..7680437,2	MCF-7	breast:
3	chr7:7619317..7621118-chr7:7624412..7627303,2	K562	blood:
4	chr7:7605958..7609334-chr7:7621457..7626452,6	MCF-7	breast:
5	chr7:7623184..7625246-chr7:7625953..7628454,2	K562	blood:
6	chr7:7623467..7625147-chr7:7680756..7682414,2	K562	blood:

Variant related genes	Relation type
ENSG00000106399	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000219545	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1016028	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10229961	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10276434	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10952059	1.00[MEX][hapmap]
rs11773679	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11976831	0.95[EUR][1000 genomes]
rs11983756	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12535954	0.91[EUR][1000 genomes]
rs2051910	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2051912	0.90[EUR][1000 genomes]
rs2051913	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2051914	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2108063	0.86[EUR][1000 genomes]
rs2108064	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2108067	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2190247	0.82[EUR][1000 genomes]
rs2190248	0.95[EUR][1000 genomes]
rs2348265	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2348339	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2881888	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2881890	0.86[EUR][1000 genomes]
rs3757532	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs4035104	0.81[EUR][1000 genomes]
rs4380838	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4720741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725005	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6463696	0.82[CEU][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs6463702	1.00[CEU][hapmap]
rs6463705	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6463706	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946022	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6946425	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs6948157	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6948448	0.87[EUR][1000 genomes]
rs6957976	1.00[CEU][hapmap]
rs6958110	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6962939	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs6964397	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6974246	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7384200	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7783239	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7789187	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[EUR][1000 genomes]
rs7789287	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7791344	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791808	0.82[CEU][hapmap];0.80[YRI][hapmap]
rs7796709	0.95[EUR][1000 genomes]
rs7801367	0.82[EUR][1000 genomes]
rs7804532	0.80[YRI][hapmap]
rs7805565	1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7806046	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7808788	0.95[EUR][1000 genomes]
rs7810367	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9640043	0.95[EUR][1000 genomes]
rs9640044	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9640045	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs972600	0.95[EUR][1000 genomes]
rs974320	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:7608400-7630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:7608400-7648600	Weak transcription	NH-A	brain
9	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
11	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
12	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:7609600-7629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:7609600-7630400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:7609600-7634600	Weak transcription	HepG2	liver
18	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
19	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
21	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
24	chr7:7609800-7635800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
27	chr7:7610000-7632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:7610600-7629200	Weak transcription	Brain Angular Gyrus	brain
30	chr7:7610600-7639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
32	chr7:7610600-7654400	Weak transcription	Gastric	stomach
33	chr7:7610800-7634400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:7612600-7629200	Weak transcription	Placenta	Placenta
36	chr7:7612800-7634400	Weak transcription	A549	lung
37	chr7:7612800-7635600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:7613000-7636000	Weak transcription	Left Ventricle	heart
39	chr7:7613000-7646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:7613200-7632000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:7613200-7634600	Weak transcription	Dnd41	blood
42	chr7:7613200-7634800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:7613200-7635800	Weak transcription	Ovary	ovary
44	chr7:7613200-7637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:7613200-7637800	Weak transcription	NHDF-Ad	bronchial
46	chr7:7613200-7638600	Weak transcription	Fetal Kidney	kidney
47	chr7:7613200-7639400	Weak transcription	Fetal Brain Female	brain
48	chr7:7613200-7639800	Weak transcription	HSMMtube	muscle
49	chr7:7613400-7629200	Weak transcription	Fetal Lung	lung
50	chr7:7613400-7629400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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