Variant report

Variant	rs3736893
Chromosome Location	chr6:33639760-33639761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
2	chr6:33638667..33640711-chr6:33662007..33664504,2	MCF-7	breast:
3	chr6:33587884..33589809-chr6:33639279..33641252,2	MCF-7	breast:
4	chr6:33635449..33638444-chr6:33638493..33640843,3	K562	blood:
5	chr6:33638801..33640404-chr6:33640561..33642617,2	K562	blood:
6	chr6:33638337..33641498-chr6:33643269..33645828,4	K562	blood:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction
ENSG00000269490	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1536041	0.89[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4713651	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6909581	0.88[ASN][1000 genomes]
rs73408252	0.82[ASN][1000 genomes]
rs7769838	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs9357163	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9366827	0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9380372	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs942638	0.90[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs942639	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv470811	chr6:33622933-33647651	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv602838	chr6:33624733-33650743	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv885771	chr6:33626717-33660143	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv522906	chr6:33638180-33647651	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3736893	BAK1	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
2	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:33608200-33640800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:33611400-33643400	Weak transcription	Left Ventricle	heart
6	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
7	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
8	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
9	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr6:33621400-33643400	Strong transcription	Spleen	Spleen
12	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:33621400-33672600	Strong transcription	Dnd41	blood
14	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:33622400-33644400	Strong transcription	Gastric	stomach
16	chr6:33623200-33649000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:33623400-33641000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:33623400-33644000	Strong transcription	Fetal Stomach	stomach
19	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:33625200-33645200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:33629000-33662800	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:33630200-33651000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:33630400-33640000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr6:33630400-33650800	Weak transcription	Ovary	ovary
25	chr6:33630400-33660800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr6:33630600-33645800	Strong transcription	Fetal Thymus	thymus
27	chr6:33631200-33640200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:33631400-33642800	Strong transcription	GM12878-XiMat	blood
29	chr6:33631600-33667000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr6:33631800-33640800	Weak transcription	Fetal Brain Male	brain
31	chr6:33631800-33649400	Strong transcription	Pancreas	Pancrea
32	chr6:33631800-33661200	Weak transcription	Liver	Liver
33	chr6:33632200-33640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:33633000-33640400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:33633400-33642400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:33634800-33640400	Weak transcription	Osteobl	bone
37	chr6:33635200-33640200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:33635200-33640800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:33635400-33641200	Weak transcription	Primary B cells from cord blood	blood
40	chr6:33635600-33640200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:33636000-33641600	Strong transcription	Fetal Lung	lung
42	chr6:33636600-33640800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:33636600-33660600	Strong transcription	Colonic Mucosa	Colon
44	chr6:33636800-33640400	Weak transcription	HSMM	muscle
45	chr6:33636800-33640800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:33636800-33660200	Strong transcription	Lung	lung
47	chr6:33636800-33661400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:33637000-33640600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:33637000-33640600	Strong transcription	HMEC	breast
50	chr6:33637000-33643600	Weak transcription	K562	blood

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