Variant report

Variant	rs4832194
Chromosome Location	chr2:85986649-85986650
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85820402..85822148-chr2:85985989..85987607,2	K562	blood:
2	chr2:85978299..85982143-chr2:85985219..85987371,3	K562	blood:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1055770	1.00[CHB][hapmap]
rs11688843	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12989354	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13001375	1.00[CHB][hapmap]
rs13009725	0.83[EUR][1000 genomes]
rs13035450	1.00[CHB][hapmap]
rs1465821	0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs4832010	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832011	0.85[EUR][1000 genomes]
rs4832012	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832013	0.88[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832193	0.83[ASW][hapmap]
rs4832197	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832198	0.88[ASW][hapmap];1.00[CHB][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832199	1.00[CHB][hapmap]
rs67494720	0.83[EUR][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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	1 gene(s)	inside rSNPs	diseases
6	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4832194	DNAH6	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85983000-85990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:85983400-85987000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
3	chr2:85983400-85987000	Transcr. at gene 5' and 3'	HSMM	muscle
4	chr2:85983600-85987000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:85983600-85989000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:85983600-85989200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr2:85984200-85987000	Weak transcription	NH-A	brain
8	chr2:85984200-85992000	Weak transcription	Fetal Kidney	kidney
9	chr2:85984400-85987400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:85984400-85988000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:85984400-85988000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:85984400-85988000	Genic enhancers	Ovary	ovary
13	chr2:85984400-85988000	Weak transcription	HSMMtube	muscle
14	chr2:85984400-85988200	Enhancers	Brain Hippocampus Middle	brain
15	chr2:85984600-85987000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:85984600-85987600	Weak transcription	A549	lung
17	chr2:85984600-85987800	Weak transcription	HUVEC	blood vessel
18	chr2:85984600-85988000	Weak transcription	Fetal Heart	heart
19	chr2:85984600-85988000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:85984600-85990200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:85984800-85986800	Genic enhancers	Right Ventricle	heart
22	chr2:85985200-85989200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:85985400-85987000	Enhancers	Brain Germinal Matrix	brain
24	chr2:85985400-85987000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:85985400-85995200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:85985600-85987000	Genic enhancers	Brain Anterior Caudate	brain
27	chr2:85985600-85987000	Enhancers	Psoas Muscle	Psoas
28	chr2:85985600-85987200	Enhancers	Colonic Mucosa	Colon
29	chr2:85985600-85987600	Strong transcription	Osteobl	bone
30	chr2:85985800-85987000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:85985800-85987000	Enhancers	HepG2	liver
32	chr2:85985800-85987000	Weak transcription	NHDF-Ad	bronchial
33	chr2:85985800-85988200	Weak transcription	Stomach Mucosa	stomach
34	chr2:85986000-85986800	Strong transcription	Fetal Intestine Small	intestine
35	chr2:85986000-85986800	Strong transcription	Fetal Lung	lung
36	chr2:85986000-85987000	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
37	chr2:85986000-85987000	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:85986000-85987200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:85986000-85987400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:85986000-85987600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:85986000-85987800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:85986000-85988200	Genic enhancers	Left Ventricle	heart
43	chr2:85986000-85988400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:85986000-85989200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:85986000-85990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:85986000-85991200	Enhancers	Liver	Liver
47	chr2:85986000-85995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:85986200-85986800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:85986200-85987600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:85986400-85986800	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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