Variant report

Variant	rs1013894
Chromosome Location	chr6:57183734-57183735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57036906..57039086-chr6:57181130..57183954,3	K562	blood:
2	chr6:57183026..57185889-chr6:57188123..57191219,3	K562	blood:
3	chr6:57182975..57187891-chr6:57191602..57197743,6	K562	blood:
4	chr6:56817510..56820425-chr6:57182215..57184592,2	K562	blood:
5	chr6:57182878..57185696-chr6:57187760..57190457,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction
ENSG00000151917	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1013893	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1019210	0.82[CHB][hapmap]
rs10733187	0.84[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12664535	0.83[ASN][1000 genomes]
rs1618210	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1741916	0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1755833	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013464	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs2098172	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs3800015	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4712144	0.82[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4715653	0.88[ASN][1000 genomes]
rs4715654	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs4715655	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4715656	0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4715657	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6459191	0.81[ASN][1000 genomes]
rs6459193	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7754116	0.86[ASN][1000 genomes]
rs7771738	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9357943	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9357944	0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs9382701	0.88[ASN][1000 genomes]
rs9382736	0.82[CHB][hapmap]
rs9396278	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs9464439	0.89[ASN][1000 genomes]
rs980327	0.85[CHB][hapmap]

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	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57181200-57183800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:57181400-57183800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:57181400-57184400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:57182600-57184000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:57182800-57184000	Flanking Active TSS	Osteobl	bone
6	chr6:57182800-57191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:57182800-57192600	Weak transcription	Aorta	Aorta
8	chr6:57182800-57194200	Weak transcription	Small Intestine	intestine
9	chr6:57183000-57184000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:57183000-57184200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:57183000-57184200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:57183000-57184200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:57183000-57184200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:57183000-57184200	Weak transcription	Left Ventricle	heart
15	chr6:57183000-57184400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:57183000-57184400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:57183000-57185000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:57183000-57185200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:57183000-57185400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:57183000-57185600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:57183000-57185600	Weak transcription	Right Ventricle	heart
22	chr6:57183000-57191400	Weak transcription	Lung	lung
23	chr6:57183000-57192600	Weak transcription	Esophagus	oesophagus
24	chr6:57183000-57194200	Weak transcription	Pancreas	Pancrea
25	chr6:57183000-57194200	Weak transcription	Spleen	Spleen
26	chr6:57183000-57194400	Weak transcription	Brain Substantia Nigra	brain
27	chr6:57183000-57194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
29	chr6:57183200-57183800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:57183200-57183800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:57183200-57183800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:57183200-57183800	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:57183200-57183800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:57183200-57183800	Weak transcription	Placenta	Placenta
35	chr6:57183200-57183800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:57183200-57183800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:57183200-57184000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:57183200-57184000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
39	chr6:57183200-57184000	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:57183200-57184000	Weak transcription	Fetal Stomach	stomach
41	chr6:57183200-57184000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:57183200-57184200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr6:57183200-57184200	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:57183200-57184200	Enhancers	HUVEC	blood vessel
45	chr6:57183200-57184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:57183200-57184400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:57183200-57184400	Weak transcription	Fetal Intestine Large	intestine
48	chr6:57183200-57184600	Weak transcription	Fetal Kidney	kidney
49	chr6:57183200-57184800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:57183200-57185000	Weak transcription	Primary B cells from peripheral blood	blood

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