Variant report

Variant	rs376006
Chromosome Location	chr6:33370774-33370775
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33370349-33370791	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:33370644-33376342	K562	blood:	n/a	n/a
3	POLR2A	chr6:33370411-33372238	K562	blood:	n/a	n/a
4	POLR2A	chr6:33370771-33371771	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33363619..33367715-chr6:33369432..33373076,4	K562	blood:
2	chr6:33341840..33344393-chr6:33370227..33373059,2	K562	blood:
3	chr6:33245690..33247274-chr6:33369658..33371309,2	MCF-7	breast:
4	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
5	chr6:33366134..33368081-chr6:33369607..33371884,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL12P1	TF binding region
KIFC1	TF binding region
ENSG00000223501	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11757273	0.85[ASN][1000 genomes]
rs12204193	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1613451	0.88[ASN][1000 genomes]
rs1755047	0.88[ASN][1000 genomes]
rs2274730	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2480487	0.86[ASN][1000 genomes]
rs2743	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2772373	0.90[ASN][1000 genomes]
rs2772387	0.85[ASN][1000 genomes]
rs2772390	0.86[ASN][1000 genomes]
rs2772392	0.86[ASN][1000 genomes]
rs3117320	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130001	0.83[EUR][1000 genomes]
rs3130002	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130006	0.82[AMR][1000 genomes]
rs3130007	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130015	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130025	0.86[ASN][1000 genomes]
rs3130274	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130275	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130276	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs371005	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs391500	0.89[AMR][1000 genomes]
rs420714	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs442745	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs456993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs461887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs461964	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4620113	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs465223	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465506	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs465877	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs467065	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66840884	0.84[ASN][1000 genomes]
rs6942045	0.88[AMR][1000 genomes]
rs9278025	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9278029	0.87[AMR][1000 genomes]
rs9357159	0.84[ASN][1000 genomes]
rs9368760	0.85[AMR][1000 genomes]
rs9380355	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380365	0.81[CHB][hapmap]
rs9461856	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv969387	chr6:33365795-33371279	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
3	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
4	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
5	chr6:33360400-33377600	Weak transcription	Lung	lung
6	chr6:33360800-33371000	Weak transcription	Placenta	Placenta
7	chr6:33360800-33371200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:33360800-33377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:33361000-33371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:33361000-33371200	Weak transcription	Gastric	stomach
11	chr6:33361000-33371400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:33361000-33372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:33361000-33377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:33361200-33371000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:33361200-33371200	Weak transcription	Spleen	Spleen
16	chr6:33361200-33371400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:33361200-33377200	Weak transcription	Colonic Mucosa	Colon
18	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:33361400-33371200	Weak transcription	Fetal Kidney	kidney
20	chr6:33361600-33377200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:33362400-33371200	Weak transcription	Fetal Brain Female	brain
23	chr6:33362800-33376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:33363000-33376400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:33363000-33376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:33363200-33371400	Weak transcription	Brain Germinal Matrix	brain
27	chr6:33363200-33377200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:33363200-33377200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:33363400-33371000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:33363400-33376400	Strong transcription	Fetal Thymus	thymus
31	chr6:33363400-33377200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:33363400-33377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:33364000-33377200	Weak transcription	Fetal Heart	heart
34	chr6:33365200-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:33365400-33375800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:33365400-33375800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:33365400-33376200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:33365400-33376200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:33365400-33376600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:33365400-33376600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:33365400-33376600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:33365400-33376800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr6:33365400-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:33365400-33376800	Strong transcription	K562	blood
45	chr6:33365600-33376000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:33366000-33375800	Strong transcription	Dnd41	blood
47	chr6:33366400-33371000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:33366400-33377200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:33366400-33377200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:33367000-33371000	Weak transcription	NHEK	skin

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