Variant report

Variant	rs10279675
Chromosome Location	chr7:103846781-103846782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103844120..103846835-chr7:103848105..103849807,2	MCF-7	breast:
2	chr7:103846497..103848385-chr7:103909952..103912269,2	MCF-7	breast:
3	chr7:103846124..103848372-chr7:103861589..103863576,2	MCF-7	breast:
4	chr7:103835421..103837340-chr7:103844960..103847432,2	K562	blood:
5	chr5:172756464..172758729-chr7:103845451..103847113,2	MCF-7	breast:
6	chr7:103833753..103835540-chr7:103846175..103847854,2	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction
ENSG00000113739	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10155973	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230637	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10232393	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238218	0.81[YRI][hapmap]
rs10245622	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248278	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10250051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251976	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10260238	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10275705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277637	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10279892	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281636	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11489610	0.81[YRI][hapmap]
rs16873424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17159938	0.87[CEU][hapmap];0.96[YRI][hapmap]
rs2188287	0.87[CEU][hapmap]
rs2299415	0.81[AFR][1000 genomes]
rs55749110	0.92[EUR][1000 genomes]
rs55901574	0.94[EUR][1000 genomes]
rs56390129	0.97[EUR][1000 genomes]
rs57278162	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59290626	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949887	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6971709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415708	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73415709	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73415730	1.00[AFR][1000 genomes]
rs73415735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415737	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417705	0.87[AFR][1000 genomes]
rs7777906	0.81[YRI][hapmap]
rs7784705	0.81[YRI][hapmap]
rs9656093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
2	chr7:103839800-103847400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:103840000-103847200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:103840000-103847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:103840400-103847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:103840600-103847800	Weak transcription	Small Intestine	intestine
7	chr7:103841800-103846800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:103841800-103846800	Weak transcription	Fetal Intestine Small	intestine
9	chr7:103842400-103847200	Weak transcription	HSMMtube	muscle
10	chr7:103842400-103847400	Weak transcription	Lung	lung
11	chr7:103842600-103846800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:103843800-103846800	Weak transcription	Colonic Mucosa	Colon
13	chr7:103843800-103846800	Weak transcription	Fetal Stomach	stomach
14	chr7:103843800-103847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:103843800-103847600	Weak transcription	Aorta	Aorta
16	chr7:103844000-103846800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:103844000-103847200	Weak transcription	Left Ventricle	heart
18	chr7:103844000-103847600	Weak transcription	Gastric	stomach
19	chr7:103844200-103846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:103844200-103847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:103844200-103847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:103844200-103847200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:103844200-103847200	Weak transcription	Fetal Thymus	thymus
24	chr7:103844200-103847400	Weak transcription	Esophagus	oesophagus
25	chr7:103844200-103847400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:103844200-103847400	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:103844200-103847400	Weak transcription	Placenta	Placenta
28	chr7:103844200-103847600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:103844400-103846800	Weak transcription	Fetal Lung	lung
30	chr7:103844400-103847000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:103844400-103847200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:103844400-103847200	Weak transcription	Fetal Intestine Large	intestine
33	chr7:103844400-103847200	Weak transcription	HSMM	muscle
34	chr7:103844400-103847200	Weak transcription	NH-A	brain
35	chr7:103844400-103847400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:103844600-103846800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:103844600-103847000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:103844600-103847000	Weak transcription	Brain Substantia Nigra	brain
39	chr7:103844600-103847200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:103844600-103847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:103844600-103847200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:103844600-103847200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:103844800-103846800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:103844800-103847000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:103844800-103847000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:103844800-103847000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:103844800-103847000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:103844800-103847000	Weak transcription	NHDF-Ad	bronchial
49	chr7:103844800-103847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:103844800-103847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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