Variant report

Variant	rs837226
Chromosome Location	chr8:130967897-130967898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130961662..130964627-chr8:130966336..130969017,2	K562	blood:
2	chr8:130966871..130968440-chr8:130972283..130975022,2	K562	blood:
3	chr8:130954709..130956974-chr8:130965501..130967949,2	K562	blood:
4	chr8:130967769..130969893-chr8:131027217..131029473,2	K562	blood:
5	chr8:130966636..130968344-chr8:131006185..131008673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1670745	0.85[CEU][hapmap];0.93[TSI][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs837226	TMEM71	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
2	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:130953200-130968800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:130953200-130969200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:130953200-130970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130953200-130974800	Weak transcription	Fetal Brain Female	brain
7	chr8:130953400-130968800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:130953400-130969000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:130953400-130969400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:130953400-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
12	chr8:130953600-130975400	Weak transcription	HMEC	breast
13	chr8:130953600-130980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:130959200-130979400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:130959600-130969400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:130960600-130969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:130961000-130968800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:130961000-130970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:130961000-130977200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:130961200-130968800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:130961200-130969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:130961400-130970200	Weak transcription	Fetal Thymus	thymus
25	chr8:130962000-130969200	Weak transcription	Ovary	ovary
26	chr8:130962800-130968400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:130963200-130969000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:130965400-130968800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:130965800-130968000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:130965800-130975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:130965800-130975000	Weak transcription	Psoas Muscle	Psoas
32	chr8:130965800-130983800	Weak transcription	HSMMtube	muscle
33	chr8:130966000-130968200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:130966000-130968800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:130966000-130968800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:130966000-130970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:130966000-130970400	Weak transcription	A549	lung
38	chr8:130966000-130970800	Weak transcription	K562	blood
39	chr8:130966000-130971600	Weak transcription	Spleen	Spleen
40	chr8:130966000-130975000	Weak transcription	Gastric	stomach
41	chr8:130966000-130975000	Weak transcription	Pancreas	Pancrea
42	chr8:130966000-130975200	Weak transcription	Lung	lung
43	chr8:130966000-130975200	Weak transcription	Thymus	Thymus
44	chr8:130966000-130975400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:130966000-130975600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:130966000-130976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:130966000-130981600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
50	chr8:130966200-130968600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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