Variant report

Variant	rs10279892
Chromosome Location	chr7:103846896-103846897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000113739	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

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[LWK][hapmap];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]
rs10251561	0.83[MKK][hapmap]
rs10251976	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10260238	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10263828	0.85[MKK][hapmap]
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]
rs10279675	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	0.83[YRI][hapmap]
rs16873424	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17159290	0.80[ASW][hapmap]
rs17159938	0.85[CEU][hapmap];0.95[YRI][hapmap]
rs2188287	0.85[CEU][hapmap]
rs2299415	0.81[AFR][1000 genomes]
rs2307409	0.81[MKK][hapmap]
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	0.83[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][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	0.83[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:126 , 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	chr7:103842400-103847200	Weak transcription	HSMMtube	muscle
8	chr7:103842400-103847400	Weak transcription	Lung	lung
9	chr7:103843800-103847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:103843800-103847600	Weak transcription	Aorta	Aorta
11	chr7:103844000-103847200	Weak transcription	Left Ventricle	heart
12	chr7:103844000-103847600	Weak transcription	Gastric	stomach
13	chr7:103844200-103847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:103844200-103847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:103844200-103847200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:103844200-103847200	Weak transcription	Fetal Thymus	thymus
17	chr7:103844200-103847400	Weak transcription	Esophagus	oesophagus
18	chr7:103844200-103847400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:103844200-103847400	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:103844200-103847400	Weak transcription	Placenta	Placenta
21	chr7:103844200-103847600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:103844400-103847000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:103844400-103847200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:103844400-103847200	Weak transcription	Fetal Intestine Large	intestine
25	chr7:103844400-103847200	Weak transcription	HSMM	muscle
26	chr7:103844400-103847200	Weak transcription	NH-A	brain
27	chr7:103844400-103847400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:103844600-103847000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:103844600-103847000	Weak transcription	Brain Substantia Nigra	brain
30	chr7:103844600-103847200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:103844600-103847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:103844600-103847200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:103844600-103847200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:103844800-103847000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:103844800-103847000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:103844800-103847000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:103844800-103847000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:103844800-103847000	Weak transcription	NHDF-Ad	bronchial
39	chr7:103844800-103847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:103844800-103847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:103845000-103847000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:103845200-103847200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:103845800-103847000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:103845800-103847200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:103846000-103847000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:103846000-103847000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:103846000-103847000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:103846000-103847200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:103846000-103847200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:103846000-103847200	Enhancers	Brain Inferior Temporal Lobe	brain

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