Variant report

Variant	rs847861
Chromosome Location	chr6:34938809-34938810
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	chr6:34937846..34940693-chr6:34953607..34956913,3	K562	blood:
2	chr6:34857055..34859091-chr6:34938202..34940889,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10807143	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10947533	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947534	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10947535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11755713	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13215944	0.81[ASN][1000 genomes]
rs16895035	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs16895354	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1737724	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1883639	0.81[ASN][1000 genomes]
rs2030611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2395601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2504162	0.80[YRI][hapmap]
rs34006431	0.81[ASN][1000 genomes]
rs35057781	0.82[ASN][1000 genomes]
rs35499928	0.81[ASN][1000 genomes]
rs35760768	0.81[ASN][1000 genomes]
rs35786848	0.81[ASN][1000 genomes]
rs3734258	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3734259	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs3756859	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3777750	0.88[JPT][hapmap]
rs3800443	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3800448	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3800450	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3800452	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3800453	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs3822923	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4646920	0.80[ASN][1000 genomes]
rs56140217	0.97[ASN][1000 genomes]
rs56248791	0.80[ASN][1000 genomes]
rs57955553	0.81[ASN][1000 genomes]
rs6457799	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs6907427	0.81[ASN][1000 genomes]
rs6912229	0.86[ASN][1000 genomes]
rs6913108	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6918498	0.91[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6927009	0.81[ASN][1000 genomes]
rs6941065	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs73745049	0.82[ASN][1000 genomes]
rs73745050	0.82[ASN][1000 genomes]
rs7740148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7751820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7752468	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7755801	0.81[ASN][1000 genomes]
rs7756122	0.81[ASN][1000 genomes]
rs847842	0.91[ASN][1000 genomes]
rs847844	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs847845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847862	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs861878	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9357187	0.80[ASN][1000 genomes]
rs9368835	0.80[ASN][1000 genomes]
rs9368837	0.80[ASN][1000 genomes]
rs9380465	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9380466	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9380467	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9380468	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9380470	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380476	0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9380481	0.81[ASN][1000 genomes]
rs9394254	0.81[ASN][1000 genomes]
rs9394255	0.81[ASN][1000 genomes]
rs9784889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs847861	ANKS1A	cis	normal skin	skin_eQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
3	chr6:34921200-34949400	Weak transcription	Esophagus	oesophagus
4	chr6:34921600-34949400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:34922000-34953800	Weak transcription	Hela-S3	cervix
6	chr6:34922600-34940200	Weak transcription	A549	lung
7	chr6:34922600-34940800	Weak transcription	Stomach Mucosa	stomach
8	chr6:34922800-34950200	Weak transcription	Brain Germinal Matrix	brain
9	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
11	chr6:34927200-34952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:34928400-34949400	Weak transcription	Pancreas	Pancrea
13	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:34929800-34953800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:34931600-34954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:34932400-34949200	Weak transcription	Right Atrium	heart
17	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:34933000-34939800	Weak transcription	HSMMtube	muscle
20	chr6:34933000-34949400	Weak transcription	HSMM	muscle
21	chr6:34933000-34952600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:34935000-34939000	Strong transcription	Fetal Intestine Small	intestine
23	chr6:34935200-34947000	Weak transcription	Fetal Heart	heart
24	chr6:34935200-34950400	Weak transcription	Right Ventricle	heart
25	chr6:34935200-34954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:34935200-34958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:34937200-34940600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:34937200-34941000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr6:34937200-34941200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:34937400-34939000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr6:34937400-34939000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:34937400-34939000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:34937400-34939400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:34937400-34939600	Strong transcription	HepG2	liver
35	chr6:34937400-34940200	Enhancers	NHLF	lung
36	chr6:34937400-34940400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:34937400-34940600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:34937400-34940600	Strong transcription	Primary T cells from cord blood	blood
39	chr6:34937400-34941200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:34937400-34941200	Strong transcription	Primary B cells from cord blood	blood
41	chr6:34937400-34941200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:34937400-34941200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:34937600-34939000	Strong transcription	Ovary	ovary
44	chr6:34937600-34939200	Strong transcription	Brain Substantia Nigra	brain
45	chr6:34937600-34939400	Strong transcription	Fetal Kidney	kidney
46	chr6:34937600-34939800	Strong transcription	Fetal Intestine Large	intestine
47	chr6:34937600-34939800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:34937600-34940000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:34937600-34940400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:34937600-34940600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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