Variant report

Variant	rs71415299
Chromosome Location	chr2:173325489-173325490
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	chr2:173320793..173322566-chr2:173325005..173326952,2	MCF-7	breast:
2	chr2:173292980..173293545-chr2:173325364..173326098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226963	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12475825	1.00[ASN][1000 genomes]
rs12995721	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13018866	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2357407	1.00[ASN][1000 genomes]
rs34097932	1.00[ASN][1000 genomes]
rs34098459	1.00[ASN][1000 genomes]
rs34484409	1.00[ASN][1000 genomes]
rs34606783	1.00[ASN][1000 genomes]
rs35086654	1.00[ASN][1000 genomes]
rs35530693	1.00[ASN][1000 genomes]
rs35974400	0.84[AMR][1000 genomes]
rs4972842	1.00[ASN][1000 genomes]
rs71415293	1.00[ASN][1000 genomes]
rs71415300	1.00[ASN][1000 genomes]
rs71417407	1.00[ASN][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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:173318800-173326200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:173319800-173326400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:173320200-173326600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:173320800-173326200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:173321000-173326000	Weak transcription	HepG2	liver
10	chr2:173321000-173326400	Weak transcription	Right Ventricle	heart
11	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:173321200-173325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:173321200-173325800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:173321200-173326200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:173321200-173326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:173321200-173326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
18	chr2:173321400-173325600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:173321400-173325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:173321400-173325800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:173321400-173326000	Weak transcription	Fetal Intestine Large	intestine
22	chr2:173321400-173326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:173321400-173326200	Weak transcription	Gastric	stomach
24	chr2:173321400-173326200	Weak transcription	Lung	lung
25	chr2:173321400-173326200	Weak transcription	Right Atrium	heart
26	chr2:173321400-173326400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:173321400-173327000	Weak transcription	Placenta	Placenta
28	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:173322000-173325600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:173322200-173326200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:173322200-173326400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:173322400-173326600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:173322600-173325800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:173322600-173326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:173322600-173327000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:173322600-173327200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:173322600-173327400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:173322800-173326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:173322800-173326200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:173323200-173326200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:173323200-173328400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:173323400-173325600	Weak transcription	HSMM	muscle
43	chr2:173323400-173326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:173323400-173326200	Weak transcription	Colonic Mucosa	Colon
45	chr2:173323400-173326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:173323400-173329800	Weak transcription	HSMMtube	muscle
47	chr2:173323600-173325800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:173323600-173326200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:173323800-173326000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:173323800-173326200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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