Variant report

Variant	rs12705191
Chromosome Location	chr7:103826002-103826003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103825084..103829055-chr7:103846776..103849865,4	MCF-7	breast:
2	chr7:103810117..103812021-chr7:103825452..103828315,2	K562	blood:
3	chr7:103825941..103829096-chr7:103846030..103849198,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10808128	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10953408	0.93[MKK][hapmap]
rs113877	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12056186	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056191	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12705181	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12705186	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12705187	0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12705188	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705190	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12705192	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705193	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230700	0.80[AMR][1000 genomes]
rs13238183	0.80[AMR][1000 genomes]
rs193888	0.81[MKK][hapmap]
rs194837	0.91[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs194838	0.85[EUR][1000 genomes]
rs194841	0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs194846	0.91[GIH][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs194847	0.84[JPT][hapmap]
rs194849	0.86[ASW][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap]
rs194851	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs194857	0.91[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs194858	0.82[YRI][hapmap]
rs194861	0.89[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs194865	0.82[YRI][hapmap]
rs194867	0.86[ASW][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs194868	0.86[ASW][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap]
rs2160397	0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2283035	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299408	0.86[ASW][hapmap];0.91[GIH][hapmap];0.89[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2385140	0.85[MKK][hapmap]
rs34096272	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35034355	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3757734	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3779518	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs3808008	0.80[CEU][hapmap];0.91[GIH][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3823979	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4140860	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4265124	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4385404	0.83[EUR][1000 genomes]
rs62485910	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6948583	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6961262	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6967757	0.81[AMR][1000 genomes]
rs765408	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs9768749	0.85[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	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
6	nsv527105	chr7:103826002-103836132	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
3	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
4	chr7:103767200-103829200	Weak transcription	Gastric	stomach
5	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
6	chr7:103775200-103829200	Weak transcription	Lung	lung
7	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
8	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
9	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:103800800-103829600	Weak transcription	NHLF	lung
11	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
12	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
14	chr7:103815600-103829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:103815600-103829200	Weak transcription	Aorta	Aorta
16	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
18	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:103817400-103827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:103818200-103829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:103818600-103832400	Strong transcription	Liver	Liver
22	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:103819200-103830800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:103819600-103830400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:103820600-103827600	Weak transcription	HMEC	breast
30	chr7:103820600-103829800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:103820800-103829200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:103820800-103829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:103821400-103829200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:103821800-103826800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:103822200-103836400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:103822400-103830400	Strong transcription	HepG2	liver
39	chr7:103822600-103830400	Strong transcription	Fetal Thymus	thymus
40	chr7:103822600-103839600	Strong transcription	K562	blood
41	chr7:103823000-103829600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:103823000-103832600	Strong transcription	Dnd41	blood
43	chr7:103823000-103839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:103823000-103839200	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:103823200-103829600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:103823200-103829800	Strong transcription	A549	lung
47	chr7:103823200-103831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:103823600-103829200	Weak transcription	Brain Germinal Matrix	brain
49	chr7:103823600-103830800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:103823800-103827400	Weak transcription	Fetal Lung	lung

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