Variant report

Variant	rs7584386
Chromosome Location	chr2:55271965-55271966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55235258..55238153-chr2:55271066..55273024,2	MCF-7	breast:
2	chr2:55269225..55270745-chr2:55271191..55272770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10170340	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10189379	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10496036	1.00[JPT][hapmap]
rs12464447	0.89[ASN][1000 genomes]
rs12464595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12475787	0.92[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs12475904	0.92[ASN][1000 genomes]
rs12479297	1.00[ASN][1000 genomes]
rs1348528	0.82[CHB][hapmap]
rs17046570	1.00[JPT][hapmap]
rs17046594	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17347089	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17418675	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1822618	0.82[CHB][hapmap]
rs2864049	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2968786	0.92[YRI][hapmap]
rs2972097	0.80[YRI][hapmap]
rs55698303	0.83[ASN][1000 genomes]
rs56013263	0.97[ASN][1000 genomes]
rs6545467	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545468	0.80[EUR][1000 genomes]
rs6730728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795431	0.83[ASN][1000 genomes]
rs72795440	0.87[ASN][1000 genomes]
rs7584354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601625	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs887	0.90[JPT][hapmap]

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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
4	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
8	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
9	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
10	chr2:55260800-55272000	Weak transcription	NH-A	brain
11	chr2:55260800-55272400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:55260800-55273200	Weak transcription	Psoas Muscle	Psoas
13	chr2:55261200-55273000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:55261400-55272800	Weak transcription	Thymus	Thymus
15	chr2:55266200-55272400	Weak transcription	HMEC	breast
16	chr2:55266200-55272600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:55266200-55273600	Weak transcription	Primary B cells from cord blood	blood
18	chr2:55266400-55272000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:55266400-55272600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:55266400-55272600	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:55266800-55272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:55266800-55273400	Weak transcription	Fetal Thymus	thymus
23	chr2:55267200-55272000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:55267800-55272000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:55267800-55273000	Weak transcription	Primary T cells from cord blood	blood
26	chr2:55268000-55274800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:55269400-55272000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:55269600-55272200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:55269600-55272400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:55269800-55272000	Weak transcription	HepG2	liver
31	chr2:55270200-55272000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:55270200-55272000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:55270200-55272000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:55270200-55273000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:55270200-55274000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:55270400-55272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:55270400-55272000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:55270400-55272000	Weak transcription	NHEK	skin
39	chr2:55270400-55272200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:55270400-55272400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:55270400-55272400	Enhancers	K562	blood
42	chr2:55270400-55272600	Weak transcription	Aorta	Aorta
43	chr2:55270400-55272600	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:55270400-55272800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:55270400-55272800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:55270400-55272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:55270400-55273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:55270400-55273600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:55270600-55272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:55270600-55272000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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