Variant report

Variant	rs10519784
Chromosome Location	chr4:147181808-147181809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147173157..147178069-chr4:147179636..147183576,5	MCF-7	breast:
2	chr4:147152370..147155197-chr4:147179025..147181939,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10519786	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[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]
rs10519805	0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs16998677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021340	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021345	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021355	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17021362	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17021365	0.89[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17021409	0.89[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs2291379	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4561947	0.83[CHB][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes]
rs57305184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58203372	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58738547	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58800297	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58997046	0.80[AMR][1000 genomes]
rs59524631	0.92[AMR][1000 genomes]
rs59758996	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811977	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59890707	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59916828	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59937090	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60175042	0.96[AMR][1000 genomes]
rs60862748	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61016468	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61219941	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:147166800-147186400	Weak transcription	Spleen	Spleen
6	chr4:147166800-147187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:147166800-147190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
9	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
10	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:147167400-147185800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:147167400-147209000	Weak transcription	Ovary	ovary
13	chr4:147167800-147188600	Weak transcription	Pancreas	Pancrea
14	chr4:147170000-147196400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:147172600-147184600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:147175000-147196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:147175600-147184200	Weak transcription	K562	blood
23	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:147177200-147184200	Strong transcription	Primary T cells from cord blood	blood
26	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:147177600-147182600	Weak transcription	Fetal Heart	heart
28	chr4:147177600-147187400	Weak transcription	Fetal Brain Female	brain
29	chr4:147177800-147182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:147177800-147182200	Weak transcription	HUVEC	blood vessel
31	chr4:147177800-147183800	Weak transcription	HSMMtube	muscle
32	chr4:147177800-147188200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:147178000-147182200	Weak transcription	Stomach Mucosa	stomach
34	chr4:147178000-147183800	Weak transcription	Lung	lung
35	chr4:147178000-147186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:147178000-147186400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:147178000-147195800	Weak transcription	NH-A	brain
38	chr4:147178000-147200400	Weak transcription	Fetal Lung	lung
39	chr4:147178200-147182200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:147178200-147189200	Weak transcription	HSMM	muscle
41	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
42	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
43	chr4:147179200-147184400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:147179200-147190800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:147179200-147206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:147179400-147185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:147179400-147205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:147179400-147206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart

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