Variant report

Variant	rs9381303
Chromosome Location	chr6:44217667-44217668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44044085..44046991-chr6:44216069..44218144,2	K562	blood:
2	chr6:44138460..44140248-chr6:44216411..44219191,2	MCF-7	breast:
3	chr6:44086896..44089729-chr6:44217507..44220003,2	K562	blood:
4	chr6:43593505..43599096-chr6:44213646..44217999,9	K562	blood:
5	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
6	chr6:44217074..44219201-chr6:44303234..44306266,3	K562	blood:
7	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
8	chr6:44147611..44150566-chr6:44216082..44217959,2	K562	blood:
9	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
10	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
11	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
12	chr6:44119338..44121268-chr6:44217080..44219082,2	K562	blood:
13	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
14	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
15	chr6:44216338..44218124-chr6:44278260..44280536,2	MCF-7	breast:
16	chr6:44216828..44218567-chr6:86441668..86443185,2	K562	blood:
17	chr6:44102300..44103810-chr6:44217085..44219374,2	K562	blood:
18	chr6:44216828..44218567-chr6:86441664..86443185,4	K562	blood:
19	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
20	chr6:44216083..44217678-chr6:44271012..44273836,2	MCF-7	breast:
21	chr6:43637159..43639334-chr6:44216185..44218215,2	K562	blood:
22	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096401	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1128930	0.85[ASN][1000 genomes]
rs12202977	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12216216	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12664825	1.00[ASW][hapmap]
rs1570920	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070695	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3187	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3188	1.00[CEU][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs3734703	0.80[ASN][1000 genomes]
rs3757280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55823111	0.90[EUR][1000 genomes]
rs666462	0.84[CHB][hapmap]
rs760370	0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9367190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381298	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381299	0.83[CHD][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes]
rs9394994	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394995	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394996	1.00[ASW][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
12	nsv969396	chr6:44216621-44221180	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44214200-44217800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:44214800-44220200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
3	chr6:44215000-44220000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr6:44215400-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:44215400-44218400	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr6:44215400-44218600	Transcr. at gene 5' and 3'	A549	lung
7	chr6:44215600-44217800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr6:44215600-44218400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr6:44215800-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:44215800-44217800	Transcr. at gene 5' and 3'	HMEC	breast
11	chr6:44215800-44218400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr6:44215800-44218800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:44215800-44218800	Transcr. at gene 5' and 3'	Hela-S3	cervix
14	chr6:44215800-44221400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr6:44216200-44223800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
16	chr6:44216400-44217800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
17	chr6:44216400-44218000	Transcr. at gene 5' and 3'	Right Ventricle	heart
18	chr6:44216400-44218400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:44216400-44218600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:44216400-44218800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:44216400-44218800	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
22	chr6:44216400-44220200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:44216600-44217800	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr6:44216600-44217800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:44216600-44217800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:44216600-44218600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:44216600-44218800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
28	chr6:44216600-44223200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44216600-44223400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:44216600-44223400	Strong transcription	Fetal Kidney	kidney
31	chr6:44216800-44217800	Genic enhancers	Duodenum Mucosa	Duodenum
32	chr6:44216800-44218200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:44216800-44218600	Genic enhancers	Liver	Liver
34	chr6:44216800-44218800	Genic enhancers	Thymus	Thymus
35	chr6:44216800-44222000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:44216800-44223200	Strong transcription	Aorta	Aorta
37	chr6:44216800-44223400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:44217000-44218000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:44217000-44218600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:44217000-44218800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:44217000-44221800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:44217000-44222200	Strong transcription	Primary B cells from cord blood	blood
43	chr6:44217000-44223200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:44217000-44223200	Strong transcription	Esophagus	oesophagus
45	chr6:44217000-44223200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr6:44217200-44217800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:44217200-44218000	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:44217200-44218400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:44217200-44218400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:44217200-44218400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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