Variant report

Variant	rs6951449
Chromosome Location	chr7:16811553-16811554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16795785..16798056-chr7:16809613..16812120,2	MCF-7	breast:
2	chr7:16738651..16740401-chr7:16809870..16812323,2	K562	blood:
3	chr7:16792792..16795221-chr7:16809203..16812018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10233465	0.83[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs10238328	0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs1149519	0.85[ASN][1000 genomes]
rs1149522	0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs1149524	0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs1149526	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12530923	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12535558	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540544	0.87[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs13232235	0.82[ASN][1000 genomes]
rs13244013	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290836	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290837	0.83[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34614062	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779051	0.85[CHB][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs3807490	0.85[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs3807492	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807493	0.83[CEU][hapmap]
rs3807509	0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs3823652	0.95[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4400279	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4721538	0.83[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4721539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55802535	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62441050	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6461276	0.80[TSI][hapmap]
rs6962578	0.90[JPT][hapmap]
rs6975847	0.85[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs7781646	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs7808455	0.83[CEU][hapmap]
rs7809197	0.82[EUR][1000 genomes]
rs818803	0.91[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
3	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
5	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:16805200-16813600	Weak transcription	Left Ventricle	heart
11	chr7:16805200-16815600	Weak transcription	Fetal Brain Female	brain
12	chr7:16805200-16815800	Weak transcription	Fetal Intestine Large	intestine
13	chr7:16806400-16821400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:16806800-16815200	Weak transcription	Pancreas	Pancrea
15	chr7:16810400-16811600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:16810400-16812200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr7:16810600-16812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:16810800-16812000	Enhancers	Fetal Heart	heart
19	chr7:16810800-16815400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:16810800-16823200	Weak transcription	Psoas Muscle	Psoas
21	chr7:16810800-16825000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:16811000-16811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:16811000-16811600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:16811000-16811600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:16811000-16814800	Strong transcription	Primary B cells from cord blood	blood
26	chr7:16811000-16815400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:16811000-16817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:16811200-16811600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:16811200-16811600	Enhancers	HMEC	breast
30	chr7:16811200-16811600	Enhancers	NHEK	skin
31	chr7:16811200-16811800	Enhancers	Adipose Nuclei	Adipose
32	chr7:16811200-16811800	Enhancers	Fetal Lung	lung
33	chr7:16811200-16814000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:16811200-16816000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:16811400-16812400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:16811400-16813000	Weak transcription	K562	blood
37	chr7:16811400-16813000	Weak transcription	Osteobl	bone
38	chr7:16811400-16815400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:16811400-16815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:16811400-16815400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:16811400-16821800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:16811400-16833600	Weak transcription	Fetal Muscle Leg	muscle

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