Variant report

Variant	rs11973228
Chromosome Location	chr7:6286461-6286462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6286204..6288303-chr7:6297783..6299306,2	K562	blood:
2	chr7:6283396..6285199-chr7:6286094..6287914,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11973659	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11974681	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41282682	1.00[EUR][1000 genomes]
rs55681139	1.00[EUR][1000 genomes]
rs56295477	1.00[EUR][1000 genomes]
rs6946205	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6953328	1.00[EUR][1000 genomes]
rs6957628	1.00[EUR][1000 genomes]
rs6974814	1.00[EUR][1000 genomes]
rs73675887	1.00[EUR][1000 genomes]
rs7806404	0.81[EUR][1000 genomes]
rs7807841	0.81[EUR][1000 genomes]
rs7811590	1.00[EUR][1000 genomes]
rs7811721	1.00[EUR][1000 genomes]

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	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' 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	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6269200-6288000	Weak transcription	NHEK	skin
2	chr7:6273000-6286600	Weak transcription	HSMMtube	muscle
3	chr7:6274400-6289400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:6274400-6296000	Weak transcription	Primary B cells from cord blood	blood
5	chr7:6275000-6287400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:6275000-6288000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:6275000-6296000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:6277000-6286600	Weak transcription	Psoas Muscle	Psoas
9	chr7:6281200-6288200	Weak transcription	K562	blood
10	chr7:6281200-6296000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:6281400-6288000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:6282800-6287800	Weak transcription	HMEC	breast
13	chr7:6283000-6287400	Weak transcription	Lung	lung
14	chr7:6283000-6288000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:6283000-6288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:6283200-6286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:6283200-6288000	Weak transcription	Esophagus	oesophagus
18	chr7:6283600-6288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:6284000-6286800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:6284400-6288000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:6284800-6287000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:6284800-6289000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:6285000-6287000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:6285000-6287000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:6285000-6287000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:6285000-6288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:6285000-6289200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:6285000-6289200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:6285000-6291600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:6285200-6287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:6285200-6289200	Enhancers	Osteobl	bone
32	chr7:6285400-6288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:6285400-6288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:6285600-6286600	Weak transcription	Right Atrium	heart
35	chr7:6285600-6287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:6285600-6287400	Weak transcription	Right Ventricle	heart
37	chr7:6285600-6288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:6285600-6288400	Weak transcription	Fetal Heart	heart
39	chr7:6285600-6290600	Weak transcription	Aorta	Aorta
40	chr7:6285800-6286800	Enhancers	Ovary	ovary
41	chr7:6285800-6287000	Enhancers	Adipose Nuclei	Adipose
42	chr7:6285800-6287000	Enhancers	HUVEC	blood vessel
43	chr7:6285800-6287200	Enhancers	NH-A	brain
44	chr7:6285800-6287600	Enhancers	Fetal Stomach	stomach
45	chr7:6285800-6288000	Enhancers	HSMM	muscle
46	chr7:6286000-6286800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:6286000-6286800	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:6286000-6287000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:6286000-6287000	Enhancers	Fetal Kidney	kidney
50	chr7:6286000-6287400	Weak transcription	Left Ventricle	heart

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