Variant report

Variant	rs8191821
Chromosome Location	chr6:160471752-160471753
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	chr6:160389348..160391065-chr6:160469462..160472164,2	K562	blood:
2	chr6:160463027..160464741-chr6:160470111..160472326,2	K562	blood:

Variant related genes	Relation type
ENSG00000197081	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1805075	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867350	0.93[MEX][hapmap]
rs2274849	1.00[ASN][1000 genomes]
rs2282138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2297362	1.00[CEU][hapmap]
rs2297366	0.83[AFR][1000 genomes]
rs28633601	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3777409	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798168	0.93[MEX][hapmap]
rs3798177	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4708856	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4709396	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56262344	0.86[AMR][1000 genomes]
rs56296641	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57905622	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73023681	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746102	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8191816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8191829	1.00[ASN][1000 genomes]
rs8191832	1.00[ASN][1000 genomes]
rs8191847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8191898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9457827	1.00[CEU][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191821	GALNT9	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160418600-160480400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:160443600-160473600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr6:160444000-160473400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:160444000-160473400	Strong transcription	Fetal Intestine Large	intestine
5	chr6:160444200-160490400	Weak transcription	HUVEC	blood vessel
6	chr6:160444200-160521600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:160449800-160489400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:160451600-160476400	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:160451800-160476800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:160451800-160479800	Strong transcription	Fetal Intestine Small	intestine
11	chr6:160452000-160473400	Strong transcription	Fetal Stomach	stomach
12	chr6:160452000-160477600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr6:160452400-160473400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:160452400-160476600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:160459000-160473200	Strong transcription	Spleen	Spleen
18	chr6:160459000-160476200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr6:160459200-160501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:160459600-160519200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:160459800-160473400	Strong transcription	Fetal Lung	lung
22	chr6:160460400-160472400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:160460400-160486400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr6:160460600-160473200	Strong transcription	Brain Angular Gyrus	brain
25	chr6:160460600-160500800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:160460800-160472200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:160460800-160473000	Strong transcription	Colonic Mucosa	Colon
28	chr6:160460800-160473200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr6:160460800-160473200	Strong transcription	Brain Substantia Nigra	brain
30	chr6:160460800-160473200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:160460800-160473200	Strong transcription	Placenta	Placenta
32	chr6:160460800-160486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:160460800-160520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:160460800-160520200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:160461000-160471800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:160461000-160473200	Strong transcription	Brain Hippocampus Middle	brain
37	chr6:160461000-160473200	Strong transcription	Rectal Smooth Muscle	rectum
38	chr6:160461000-160473400	Strong transcription	Primary T cells from cord blood	blood
39	chr6:160461000-160490400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr6:160461000-160497400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:160461000-160500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:160461200-160473200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:160461200-160473600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr6:160461200-160500800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:160461400-160473200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:160461400-160473200	Strong transcription	GM12878-XiMat	blood
47	chr6:160461400-160473400	Strong transcription	Primary B cells from cord blood	blood
48	chr6:160461600-160472000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:160461600-160472200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:160461600-160473200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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