Variant report

Variant	rs11971838
Chromosome Location	chr7:83818108-83818109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:83605077..83606197-chr7:83817893..83818565,3	MCF-7	breast:
2	chr7:83818053..83818798-chr7:84083869..84084417,2	MCF-7	breast:
3	chr7:83605491..83606239-chr7:83817845..83818667,6	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11973201	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11976488	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11981143	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982044	1.00[ASN][1000 genomes]
rs11982456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631483	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58513095	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61194772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709589	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73712705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83812000-83819600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:83814400-83818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:83816200-83818200	Enhancers	NHEK	skin
10	chr7:83816200-83818600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:83816200-83818600	Enhancers	Fetal Heart	heart
12	chr7:83816200-83818800	Enhancers	HMEC	breast
13	chr7:83816200-83819400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:83816200-83819600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83816200-83820600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:83816200-83821000	Enhancers	A549	lung
17	chr7:83816400-83818400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:83816400-83818600	Enhancers	Primary T cells from cord blood	blood
19	chr7:83816400-83818600	Enhancers	Hela-S3	cervix
20	chr7:83816400-83818600	Enhancers	NH-A	brain
21	chr7:83816400-83818600	Enhancers	NHDF-Ad	bronchial
22	chr7:83816400-83818800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:83816400-83819000	Enhancers	Colon Smooth Muscle	Colon
24	chr7:83816400-83819600	Weak transcription	Fetal Brain Male	brain
25	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:83816600-83818200	Enhancers	Stomach Smooth Muscle	stomach
27	chr7:83816600-83818600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:83816600-83819200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:83816600-83819600	Enhancers	NHLF	lung
30	chr7:83816800-83819400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:83816800-83819400	Enhancers	Fetal Lung	lung
32	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:83817000-83820600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:83817200-83818200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:83817200-83818400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:83817400-83819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:83817400-83819800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:83817600-83818600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:83817600-83820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:83817600-83820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:83817600-83821200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:83817600-83821200	Weak transcription	Fetal Kidney	kidney
43	chr7:83817800-83818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:83817800-83818400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:83817800-83818400	Enhancers	Fetal Stomach	stomach
46	chr7:83817800-83819200	Weak transcription	Osteobl	bone
47	chr7:83817800-83819400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:83817800-83820600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:83817800-83820600	Weak transcription	Brain Anterior Caudate	brain
50	chr7:83817800-83820800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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