Variant report

Variant	rs7248208
Chromosome Location	chr19:39318006-39318007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39316492..39318849-chr19:39371943..39374537,2	K562	blood:
2	chr19:39315714..39318484-chr19:39324884..39327703,2	K562	blood:
3	chr19:39308463..39311353-chr19:39317850..39319477,2	MCF-7	breast:
4	chr19:39316681..39320266-chr19:39320279..39323590,5	K562	blood:

Variant related genes	Relation type
ENSG00000268756	Chromatin interaction
ENSG00000104823	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10403012	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10411480	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10411844	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10424892	0.90[CHB][hapmap]
rs10425464	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10426289	0.84[JPT][hapmap]
rs1078734	0.87[GIH][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes]
rs11668179	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11668766	0.88[CHD][hapmap]
rs11671711	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12974488	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12977821	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1529713	0.90[CHB][hapmap]
rs2075587	0.81[AMR][1000 genomes]
rs2075588	0.84[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2113123	0.81[JPT][hapmap]
rs2116852	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278010	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28496951	0.81[JPT][hapmap]
rs35829996	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4328569	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802928	0.82[EUR][1000 genomes]
rs8104420	0.81[JPT][hapmap]
rs8108906	0.90[CHB][hapmap]
rs8110679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs862454	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs862457	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs862458	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs862460	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs862461	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs862462	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs862463	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9419	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39284000-39318200	Weak transcription	Fetal Kidney	kidney
2	chr19:39296200-39318200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:39296400-39318200	Weak transcription	NHEK	skin
4	chr19:39301400-39320200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:39304400-39321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:39304600-39318200	Weak transcription	Osteobl	bone
7	chr19:39304800-39320800	Weak transcription	HSMM	muscle
8	chr19:39305200-39321600	Strong transcription	Fetal Stomach	stomach
9	chr19:39305400-39321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:39305600-39318800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr19:39305600-39320400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:39305600-39321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:39307400-39321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:39308200-39320400	Weak transcription	NHLF	lung
15	chr19:39308400-39318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:39308800-39318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:39309000-39318200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:39309000-39320400	Weak transcription	Hela-S3	cervix
19	chr19:39310400-39321600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:39311800-39321200	Weak transcription	Stomach Mucosa	stomach
21	chr19:39311800-39321400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:39312600-39318400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:39312600-39319800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr19:39312600-39320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:39313400-39318200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr19:39313600-39319200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr19:39313800-39319400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:39313800-39321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:39314000-39318200	Weak transcription	GM12878-XiMat	blood
30	chr19:39314000-39321400	Weak transcription	Esophagus	oesophagus
31	chr19:39314200-39318200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:39315200-39321200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:39315400-39319000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr19:39315400-39319800	Genic enhancers	Fetal Intestine Small	intestine
35	chr19:39315600-39321000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:39315800-39318200	Weak transcription	Fetal Brain Male	brain
37	chr19:39316000-39321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:39316000-39321600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:39316200-39318200	Enhancers	Fetal Heart	heart
40	chr19:39316200-39319600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:39316200-39320600	Strong transcription	Brain Germinal Matrix	brain
42	chr19:39316200-39321400	Genic enhancers	Placenta	Placenta
43	chr19:39316400-39318400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
44	chr19:39316400-39318800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:39316400-39319000	Genic enhancers	Liver	Liver
46	chr19:39316400-39319000	Genic enhancers	Left Ventricle	heart
47	chr19:39316400-39319200	Strong transcription	Brain Anterior Caudate	brain
48	chr19:39316400-39319600	Strong transcription	Primary T cells from cord blood	blood
49	chr19:39316400-39320600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:39316600-39318600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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