Variant report

Variant	rs3176509
Chromosome Location	chr7:48017526-48017527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:48015837..48017649-chr7:48045568..48048031,2	K562	blood:
2	chr7:48016950..48019113-chr7:48039129..48042039,2	K562	blood:
3	chr7:48017456..48020295-chr7:48126750..48129913,5	K562	blood:

Variant related genes	Relation type
ENSG00000183696	Chromatin interaction
ENSG00000164744	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11971829	1.00[YRI][hapmap]
rs11973024	1.00[YRI][hapmap]
rs12668946	1.00[YRI][hapmap]
rs12673502	1.00[YRI][hapmap]
rs17710633	1.00[YRI][hapmap]
rs2123609	1.00[YRI][hapmap]
rs3176492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3176542	1.00[YRI][hapmap]
rs3176543	1.00[YRI][hapmap]
rs3176544	1.00[YRI][hapmap]
rs3176606	1.00[YRI][hapmap]
rs9639988	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47999600-48017600	Strong transcription	Primary T cells from cord blood	blood
2	chr7:47999600-48018000	Strong transcription	Fetal Thymus	thymus
3	chr7:48000200-48017800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:48000400-48017600	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:48000400-48017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:48000400-48017600	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:48000400-48017800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:48000400-48017800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:48000600-48017600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:48001600-48017600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:48002000-48018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:48007400-48018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:48009600-48018000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:48009800-48018000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:48010000-48018000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:48010200-48017600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:48010200-48017800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:48010200-48017800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:48010200-48018200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:48010400-48017600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr7:48010400-48018000	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:48010400-48018200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:48010600-48017800	Strong transcription	Brain Anterior Caudate	brain
24	chr7:48010600-48018000	Strong transcription	Primary B cells from cord blood	blood
25	chr7:48010600-48018000	Strong transcription	Fetal Lung	lung
26	chr7:48010800-48017600	Strong transcription	Hela-S3	cervix
27	chr7:48010800-48018000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:48010800-48018000	Strong transcription	Placenta	Placenta
29	chr7:48010800-48018000	Strong transcription	Fetal Stomach	stomach
30	chr7:48010800-48018000	Strong transcription	Spleen	Spleen
31	chr7:48011000-48017600	Strong transcription	HSMMtube	muscle
32	chr7:48011000-48017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:48011000-48017800	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:48011000-48018000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:48011000-48018200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr7:48011200-48017600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:48011200-48017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:48011200-48017800	Strong transcription	Brain Angular Gyrus	brain
39	chr7:48011200-48017800	Strong transcription	NH-A	brain
40	chr7:48011200-48018000	Weak transcription	Right Atrium	heart
41	chr7:48011200-48018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:48011400-48017600	Strong transcription	Osteobl	bone
43	chr7:48011400-48017800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:48011400-48017800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr7:48011400-48017800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:48011400-48017800	Strong transcription	Fetal Intestine Large	intestine
47	chr7:48011400-48017800	Strong transcription	NHDF-Ad	bronchial
48	chr7:48011600-48017800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:48011600-48017800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr7:48011800-48017800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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