Variant report

Variant	rs12995911
Chromosome Location	chr2:173321106-173321107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173111550..173113356-chr2:173319869..173321428,2	MCF-7	breast:
2	chr2:173320023..173322995-chr2:173325583..173327892,3	MCF-7	breast:
3	chr2:173320793..173322566-chr2:173325005..173326952,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13027636	1.00[AFR][1000 genomes]
rs34803844	1.00[AFR][1000 genomes]
rs35073987	1.00[AFR][1000 genomes]
rs35182736	1.00[AFR][1000 genomes]
rs71415280	1.00[AFR][1000 genomes]
rs71415298	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173307400-173322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:173310800-173322400	Weak transcription	Thymus	Thymus
3	chr2:173312200-173323600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:173313600-173323400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:173315200-173324800	Genic enhancers	NHEK	skin
6	chr2:173316000-173322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:173316200-173321800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:173316200-173321800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:173316200-173323400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:173316200-173323800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:173316400-173321400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:173317000-173322000	Genic enhancers	Primary T cells from cord blood	blood
13	chr2:173317000-173323800	Enhancers	Stomach Mucosa	stomach
14	chr2:173317200-173322600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:173317200-173325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
18	chr2:173317800-173323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:173318000-173321200	Enhancers	Small Intestine	intestine
20	chr2:173318000-173321400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:173318000-173321400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:173318200-173321200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:173318200-173321400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:173318200-173322600	Weak transcription	Psoas Muscle	Psoas
25	chr2:173318400-173322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:173318600-173321200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:173318600-173321400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:173318600-173321400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:173318800-173326200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:173319000-173321200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:173319000-173321400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:173319000-173321400	Enhancers	Adipose Nuclei	Adipose
33	chr2:173319000-173321400	Enhancers	Fetal Intestine Large	intestine
34	chr2:173319000-173321400	Enhancers	Placenta	Placenta
35	chr2:173319000-173322000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:173319200-173321200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:173319200-173321200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:173319200-173321200	Enhancers	Hela-S3	cervix
39	chr2:173319200-173321400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:173319200-173321400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:173319200-173321400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:173319400-173321200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:173319400-173321200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:173319400-173321400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr2:173319400-173321400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:173319600-173321200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:173319600-173321400	Genic enhancers	Fetal Intestine Small	intestine
49	chr2:173319600-173321400	Enhancers	Right Atrium	heart
50	chr2:173319600-173324800	Enhancers	Fetal Thymus	thymus

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