Variant report

Variant	rs11901314
Chromosome Location	chr2:173319388-173319389
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	chr2:173317241..173319524-chr2:173329311..173331759,2	K562	blood:
2	chr2:173278303..173281188-chr2:173318534..173320264,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232788	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10165273	0.85[CHB][hapmap];0.94[ASN][1000 genomes]
rs10165340	0.85[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.94[ASN][1000 genomes]
rs10188909	0.85[CHB][hapmap];0.94[ASN][1000 genomes]
rs10202463	0.94[ASN][1000 genomes]
rs10208194	0.99[AFR][1000 genomes]
rs13387469	0.94[ASN][1000 genomes]
rs13430568	0.85[CHB][hapmap];0.94[ASN][1000 genomes]
rs16860422	1.00[ASN][1000 genomes]
rs16860435	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950099	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2701267	0.89[ASN][1000 genomes]
rs2737081	0.89[ASN][1000 genomes]
rs28595036	0.99[AFR][1000 genomes]
rs59360025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59979740	1.00[ASN][1000 genomes]
rs6726739	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs6755175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564416	0.90[YRI][hapmap];0.96[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:86 , 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	chr2:173307600-173321000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:173310800-173319800	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:173310800-173320000	Weak transcription	Lung	lung
5	chr2:173310800-173322400	Weak transcription	Thymus	Thymus
6	chr2:173312200-173319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:173312200-173323600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:173313200-173319800	Weak transcription	Fetal Kidney	kidney
9	chr2:173313600-173323400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:173314400-173319400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:173315000-173320000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:173315000-173320800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:173315200-173319400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:173315200-173324800	Genic enhancers	NHEK	skin
15	chr2:173315400-173319800	Weak transcription	HSMM	muscle
16	chr2:173315400-173320200	Weak transcription	HSMMtube	muscle
17	chr2:173316000-173320400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:173316000-173320800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:173316000-173322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:173316200-173320800	Genic enhancers	HMEC	breast
21	chr2:173316200-173321800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:173316200-173321800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:173316200-173323400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:173316200-173323800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:173316400-173319400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:173316400-173319600	Enhancers	Spleen	Spleen
27	chr2:173316400-173321400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:173316600-173319600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:173317000-173322000	Genic enhancers	Primary T cells from cord blood	blood
30	chr2:173317000-173323800	Enhancers	Stomach Mucosa	stomach
31	chr2:173317200-173319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:173317200-173322600	Weak transcription	Brain Anterior Caudate	brain
33	chr2:173317200-173325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:173317400-173319600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:173317400-173319600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:173317400-173320000	Weak transcription	Left Ventricle	heart
37	chr2:173317600-173319400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:173317600-173320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
41	chr2:173317800-173319600	Weak transcription	Fetal Thymus	thymus
42	chr2:173317800-173319600	Weak transcription	Right Atrium	heart
43	chr2:173317800-173319800	Weak transcription	Fetal Lung	lung
44	chr2:173317800-173320600	Weak transcription	Right Ventricle	heart
45	chr2:173317800-173323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:173318000-173320000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:173318000-173321200	Enhancers	Small Intestine	intestine
48	chr2:173318000-173321400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:173318000-173321400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:173318200-173321000	Genic enhancers	Primary T cells fromperipheralblood	blood

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