Variant report

Variant	rs6721300
Chromosome Location	chr2:173447199-173447200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173419806..173422462-chr2:173445657..173447881,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152256	Chromatin interaction
ENSG00000225205	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11902846	1.00[EUR][1000 genomes]
rs1530865	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs16860502	1.00[AMR][1000 genomes]
rs16860541	1.00[AMR][1000 genomes]
rs16860576	1.00[AMR][1000 genomes]
rs16860605	1.00[AMR][1000 genomes]
rs16860613	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16860632	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16860693	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs35661499	1.00[AMR][1000 genomes]
rs41383947	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs41482144	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs61505737	0.88[AFR][1000 genomes]
rs6719527	1.00[EUR][1000 genomes]
rs6728257	1.00[EUR][1000 genomes]
rs6745412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748504	1.00[AMR][1000 genomes]
rs6759915	1.00[AMR][1000 genomes]
rs71417403	1.00[AMR][1000 genomes]
rs7561711	1.00[AMR][1000 genomes]
rs7602724	1.00[AMR][1000 genomes]
rs8179584	1.00[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
2	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
3	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:173423400-173451000	Weak transcription	Colonic Mucosa	Colon
5	chr2:173424600-173447800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
7	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
8	chr2:173431400-173480600	Weak transcription	Gastric	stomach
9	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:173437000-173451000	Weak transcription	Thymus	Thymus
11	chr2:173437000-173451800	Weak transcription	Spleen	Spleen
12	chr2:173437400-173449600	Weak transcription	Left Ventricle	heart
13	chr2:173437400-173452000	Weak transcription	Lung	lung
14	chr2:173437600-173449800	Weak transcription	Fetal Stomach	stomach
15	chr2:173439800-173458000	Weak transcription	NHDF-Ad	bronchial
16	chr2:173440200-173458200	Weak transcription	Osteobl	bone
17	chr2:173440200-173467600	Weak transcription	NH-A	brain
18	chr2:173441400-173447800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:173442800-173448400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:173442800-173451000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:173443000-173451000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:173443000-173451000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:173443200-173449800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:173443200-173451000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:173443200-173451000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:173443200-173454400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:173443200-173455200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:173443800-173451800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:173443800-173453600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:173443800-173463200	Weak transcription	A549	lung
32	chr2:173444000-173450800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:173444000-173451000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:173444000-173451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:173444000-173451000	Weak transcription	Fetal Lung	lung
36	chr2:173444000-173452000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:173444000-173453200	Strong transcription	Dnd41	blood
38	chr2:173444000-173453400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:173444000-173456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:173444000-173464000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:173444200-173451000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:173444200-173451000	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:173444200-173451800	Weak transcription	Ovary	ovary
44	chr2:173444200-173452800	Weak transcription	NHEK	skin
45	chr2:173444200-173453600	Weak transcription	Esophagus	oesophagus
46	chr2:173444200-173455600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:173444200-173470400	Weak transcription	Psoas Muscle	Psoas
48	chr2:173444400-173480200	Strong transcription	HepG2	liver
49	chr2:173444600-173465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:173444800-173451000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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