Variant report

Variant	rs6719527
Chromosome Location	chr2:173458834-173458835
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	chr2:173456525..173460577-chr2:173461176..173464180,4	MCF-7	breast:
2	chr2:173457626..173459149-chr2:173574802..173575976,4	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11902846	1.00[EUR][1000 genomes]
rs6721300	1.00[EUR][1000 genomes]
rs6728257	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6745412	1.00[EUR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
2	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
3	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
4	chr2:173431400-173480600	Weak transcription	Gastric	stomach
5	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:173440200-173467600	Weak transcription	NH-A	brain
7	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:173443800-173463200	Weak transcription	A549	lung
9	chr2:173444000-173464000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:173444200-173470400	Weak transcription	Psoas Muscle	Psoas
11	chr2:173444400-173480200	Strong transcription	HepG2	liver
12	chr2:173444600-173465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:173445200-173463200	Weak transcription	Fetal Brain Female	brain
14	chr2:173445400-173461000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:173445400-173462600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:173445400-173471000	Weak transcription	Brain Substantia Nigra	brain
17	chr2:173446400-173460400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:173447800-173460200	Weak transcription	HUVEC	blood vessel
19	chr2:173448000-173463400	Weak transcription	Stomach Mucosa	stomach
20	chr2:173448200-173459000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:173449400-173460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:173449400-173462400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:173449800-173462800	Strong transcription	Primary B cells from cord blood	blood
24	chr2:173451200-173465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:173451600-173462800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:173451600-173463400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:173451800-173460200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:173451800-173471800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:173452000-173460000	Weak transcription	Ovary	ovary
30	chr2:173452000-173479800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:173452200-173462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:173452200-173463600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:173452400-173469400	Weak transcription	Lung	lung
34	chr2:173452800-173462800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:173452800-173462800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:173452800-173478000	Weak transcription	Fetal Brain Male	brain
37	chr2:173452800-173478600	Weak transcription	Spleen	Spleen
38	chr2:173453800-173459400	Weak transcription	Hela-S3	cervix
39	chr2:173453800-173459600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:173453800-173461200	Weak transcription	Fetal Heart	heart
41	chr2:173453800-173463400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:173453800-173472400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:173453800-173478600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:173454000-173463800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:173454000-173464200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:173454000-173471600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:173454200-173459800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:173454200-173460800	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:173454200-173461800	Weak transcription	Placenta	Placenta
50	chr2:173454200-173465200	Weak transcription	Fetal Lung	lung

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