Variant report

Variant	rs1076596
Chromosome Location	chr2:173327249-173327250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173036822..173037869-chr2:173326506..173327964,7	K562	blood:
2	chr2:173139213..173140063-chr2:173326830..173327770,2	MCF-7	breast:
3	chr2:173305651..173308111-chr2:173326516..173329013,2	MCF-7	breast:
4	chr2:172991741..172992647-chr2:173326514..173327387,2	MCF-7	breast:
5	chr2:173139130..173140223-chr2:173326888..173327510,3	MCF-7	breast:
6	chr2:173320023..173322995-chr2:173325583..173327892,3	MCF-7	breast:
7	chr2:173064966..173065861-chr2:173326898..173327413,2	K562	blood:
8	chr2:173290224..173292670-chr2:173326209..173328400,2	MCF-7	breast:
9	chr13:23885410..23886144-chr2:173327035..173327659,2	MCF-7	breast:
10	chr2:173036872..173037875-chr2:173325699..173327479,12	MCF-7	breast:
11	chr2:173036829..173037908-chr2:173326699..173327718,4	MCF-7	breast:
12	chr2:173291905..173293015-chr2:173326410..173327479,3	MCF-7	breast:
13	chr2:173066119..173066645-chr2:173326492..173327358,2	MCF-7	breast:
14	chr2:173292604..173293609-chr2:173326453..173327452,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091409	Chromatin interaction
ENSG00000226963	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10497383	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs10497384	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs1076594	0.85[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1076597	0.84[CEU][hapmap]
rs11883720	0.82[YRI][hapmap]
rs11896937	1.00[ASW][hapmap]
rs11897024	0.82[YRI][hapmap]
rs12464480	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613307	0.82[ASN][1000 genomes]
rs12616256	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622724	0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs12622816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1574258	0.82[YRI][hapmap]
rs16860450	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17676243	0.82[YRI][hapmap]
rs17676773	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs17677404	0.82[MEX][hapmap]
rs17727678	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs17727732	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs17739735	0.82[YRI][hapmap]
rs17739946	0.82[YRI][hapmap]
rs2178475	0.82[YRI][hapmap]
rs2272498	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs2357411	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34526119	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34679972	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35180608	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35288169	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35700760	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35783685	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35821653	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35861954	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36040769	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792255	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs3792256	1.00[ASW][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs3828342	0.82[YRI][hapmap]
rs4619573	0.82[YRI][hapmap]
rs4972510	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs4972511	1.00[ASW][hapmap];0.82[MEX][hapmap];0.82[YRI][hapmap]
rs4972840	0.83[CEU][hapmap]
rs59300838	0.85[ASN][1000 genomes]
rs6433359	1.00[ASW][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6433360	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6715294	0.82[YRI][hapmap]
rs6728419	0.82[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6731691	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6755605	0.82[YRI][hapmap]
rs68069880	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7582972	0.82[YRI][hapmap]
rs7591769	0.85[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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
4	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:173322600-173327400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:173323200-173328400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:173323400-173329800	Weak transcription	HSMMtube	muscle
8	chr2:173324000-173330200	Weak transcription	Psoas Muscle	Psoas
9	chr2:173324400-173328400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:173324400-173328600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:173324400-173329600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr2:173324400-173330600	Enhancers	HUVEC	blood vessel
13	chr2:173324600-173330400	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:173324800-173327800	Enhancers	Brain Anterior Caudate	brain
15	chr2:173325400-173328000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:173325400-173329400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr2:173325600-173328000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr2:173325600-173328600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:173325600-173328800	Enhancers	Adipose Nuclei	Adipose
20	chr2:173325800-173327400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:173325800-173328200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:173325800-173328200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:173325800-173328800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:173325800-173328800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:173325800-173329200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:173325800-173329200	Weak transcription	Hela-S3	cervix
27	chr2:173326000-173327800	Enhancers	Brain Substantia Nigra	brain
28	chr2:173326000-173328000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:173326000-173328800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr2:173326000-173329800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:173326000-173330000	Enhancers	HepG2	liver
32	chr2:173326000-173330600	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:173326000-173330600	Enhancers	Fetal Intestine Large	intestine
34	chr2:173326000-173330600	Enhancers	Fetal Thymus	thymus
35	chr2:173326000-173330600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:173326200-173327400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:173326200-173327800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:173326200-173327800	Flanking Active TSS	Colonic Mucosa	Colon
39	chr2:173326200-173328000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:173326200-173328000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:173326200-173328000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:173326200-173328000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:173326200-173328200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:173326200-173328800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr2:173326200-173328800	Enhancers	Spleen	Spleen
46	chr2:173326200-173329000	Enhancers	Gastric	stomach
47	chr2:173326200-173329000	Enhancers	Lung	lung
48	chr2:173326200-173329000	Enhancers	Pancreas	Pancrea
49	chr2:173326200-173329400	Enhancers	Left Ventricle	heart
50	chr2:173326400-173327400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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