Variant report

Variant	rs540850380
Chromosome Location	chr2:173462066-173462067
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:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv875417	chr2:173460803-173501069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:118 , 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	chr2:173431400-173480600	Weak transcription	Gastric	stomach
3	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:173440200-173467600	Weak transcription	NH-A	brain
5	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:173443800-173463200	Weak transcription	A549	lung
7	chr2:173444000-173464000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:173444200-173470400	Weak transcription	Psoas Muscle	Psoas
9	chr2:173444400-173480200	Strong transcription	HepG2	liver
10	chr2:173444600-173465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:173445200-173463200	Weak transcription	Fetal Brain Female	brain
12	chr2:173445400-173462600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:173445400-173471000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:173448000-173463400	Weak transcription	Stomach Mucosa	stomach
15	chr2:173449400-173462400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:173449800-173462800	Strong transcription	Primary B cells from cord blood	blood
17	chr2:173451200-173465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:173451600-173462800	Strong transcription	Primary T cells from cord blood	blood
19	chr2:173451600-173463400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:173451800-173471800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:173452000-173479800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:173452200-173462400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:173452200-173463600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:173452400-173469400	Weak transcription	Lung	lung
25	chr2:173452800-173462800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:173452800-173462800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:173452800-173478000	Weak transcription	Fetal Brain Male	brain
28	chr2:173452800-173478600	Weak transcription	Spleen	Spleen
29	chr2:173453800-173463400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:173453800-173472400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:173453800-173478600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:173454000-173463800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:173454000-173464200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:173454000-173471600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:173454200-173465200	Weak transcription	Fetal Lung	lung
36	chr2:173454200-173475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:173454400-173477800	Weak transcription	Pancreas	Pancrea
38	chr2:173454400-173479800	Weak transcription	Esophagus	oesophagus
39	chr2:173454400-173489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:173454600-173477800	Weak transcription	NHLF	lung
41	chr2:173454800-173475200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:173454800-173477800	Weak transcription	Colonic Mucosa	Colon
43	chr2:173454800-173488200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:173455200-173480200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:173455400-173478400	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:173455800-173465400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:173457000-173463200	Strong transcription	HMEC	breast
48	chr2:173457000-173469000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:173457200-173463000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:173457200-173463200	Strong transcription	Monocytes-CD14+_RO01746	blood

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