Variant report

Variant	rs6470789
Chromosome Location	chr8:131015276-131015277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131013499..131015985-chr8:131028051..131030878,2	MCF-7	breast:
2	chr8:130950627..130952678-chr8:131014268..131017998,3	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10110808	0.97[ASN][1000 genomes]
rs12541347	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12547810	0.92[ASN][1000 genomes]
rs12548639	0.99[ASN][1000 genomes]
rs12548670	0.97[ASN][1000 genomes]
rs12550248	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563167	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs16904181	0.83[CHB][hapmap]
rs1971905	0.97[ASN][1000 genomes]
rs1976582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35830950	0.86[ASN][1000 genomes]
rs4329313	0.97[ASN][1000 genomes]
rs4733754	0.80[CHB][hapmap]
rs4733757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003672	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7016267	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7016345	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7357390	0.90[CHB][hapmap];0.89[GIH][hapmap]
rs7388128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs749029	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7823995	0.90[CHB][hapmap];0.89[GIH][hapmap]
rs874579	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs882446	0.95[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6470789	TMEM71	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131006000-131016200	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr8:131008200-131015600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:131008400-131020600	Weak transcription	Psoas Muscle	Psoas
6	chr8:131008800-131015600	Weak transcription	Pancreas	Pancrea
7	chr8:131009000-131021800	Weak transcription	Colonic Mucosa	Colon
8	chr8:131009400-131026200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:131010000-131017400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:131010000-131020200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:131010000-131026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:131010000-131027000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:131010000-131027000	Weak transcription	Small Intestine	intestine
14	chr8:131010200-131022600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:131010400-131020000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:131010600-131020600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:131010800-131016400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:131010800-131020400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:131011000-131027600	Weak transcription	Stomach Mucosa	stomach
20	chr8:131011400-131016000	Genic enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:131011400-131018400	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr8:131011600-131015800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:131011600-131026800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:131011800-131019800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:131011800-131020800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:131012000-131017400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:131012000-131017600	Weak transcription	Right Ventricle	heart
28	chr8:131012000-131017800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:131012000-131019400	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:131012200-131017400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:131012200-131019400	Weak transcription	Placenta	Placenta
32	chr8:131012200-131026000	Weak transcription	Fetal Brain Female	brain
33	chr8:131012400-131015600	Weak transcription	Gastric	stomach
34	chr8:131012400-131015600	Weak transcription	Spleen	Spleen
35	chr8:131012400-131016200	Weak transcription	Brain Angular Gyrus	brain
36	chr8:131012400-131017600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:131012400-131020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:131012400-131021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:131012400-131024600	Weak transcription	Left Ventricle	heart
40	chr8:131012400-131027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:131012400-131027000	Weak transcription	Esophagus	oesophagus
42	chr8:131012600-131015600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:131012600-131017600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:131012600-131017600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:131012600-131017600	Weak transcription	Brain Substantia Nigra	brain
46	chr8:131012600-131020600	Weak transcription	Brain Anterior Caudate	brain
47	chr8:131012600-131020600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:131012600-131020600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:131012600-131020800	Weak transcription	Right Atrium	heart
50	chr8:131012600-131020800	Weak transcription	HSMM	muscle

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