Variant report

Variant	rs6944646
Chromosome Location	chr7:152549107-152549108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:152547731..152550173-chr7:152550800..152553680,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12533407	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535713	0.83[MEX][hapmap];0.80[MKK][hapmap];0.82[TSI][hapmap]
rs12703214	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28464019	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146917	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs940261	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv889506	chr7:152521953-152631037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1019335	chr7:152546243-152676615	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv539209	chr7:152546243-152676615	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6944646	ABCB8	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
2	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:152501400-152550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:152504000-152555000	Weak transcription	K562	blood
8	chr7:152508400-152549200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:152509200-152551200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:152513400-152549200	Weak transcription	Placenta	Placenta
12	chr7:152513400-152550400	Weak transcription	Esophagus	oesophagus
13	chr7:152514400-152549400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:152514400-152554800	Weak transcription	Osteobl	bone
15	chr7:152514800-152555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:152518000-152550400	Weak transcription	Right Ventricle	heart
17	chr7:152518000-152558800	Weak transcription	Dnd41	blood
18	chr7:152518400-152550400	Weak transcription	Liver	Liver
19	chr7:152518600-152551400	Weak transcription	HSMMtube	muscle
20	chr7:152519200-152549400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:152519400-152550400	Weak transcription	Ovary	ovary
22	chr7:152519600-152549200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:152520600-152549200	Weak transcription	Fetal Intestine Large	intestine
24	chr7:152527600-152564800	Weak transcription	A549	lung
25	chr7:152528600-152551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:152530600-152554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:152534800-152554600	Weak transcription	Fetal Thymus	thymus
28	chr7:152534800-152557800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:152536800-152553400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:152538200-152556600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:152538400-152559200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:152538600-152551400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:152539200-152563800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:152539800-152551400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:152540000-152550600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:152540200-152551000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:152540600-152560600	Weak transcription	HepG2	liver
38	chr7:152540800-152555200	Weak transcription	GM12878-XiMat	blood
39	chr7:152541000-152551000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:152541000-152563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:152541000-152568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:152541200-152550600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:152541200-152551000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:152541200-152559200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:152542400-152553400	Weak transcription	HSMM	muscle
46	chr7:152542800-152551400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:152544600-152551200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:152544600-152561600	Weak transcription	Fetal Kidney	kidney
49	chr7:152545200-152551600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:152545200-152553400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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