Variant report

Variant	rs34191148
Chromosome Location	chr7:66220502-66220503
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66220283-66220541	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RABGEF1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11766262	0.82[AMR][1000 genomes]
rs11768727	0.95[ASN][1000 genomes]
rs13227951	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34883818	0.89[EUR][1000 genomes]
rs4273746	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs34191148	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs34191148	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs34191148	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs34191148	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs34191148	RP4-756H11.3	cis	Thyroid	GTEx
rs34191148	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs34191148	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs34191148	RP4-756H11.3	cis	lung	GTEx
rs34191148	RP4-756H11.3	cis	Artery Tibial	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
4	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
7	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
10	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:66207600-66223400	Weak transcription	K562	blood
16	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:66207800-66220600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:66207800-66225800	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:66208000-66230600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:66208000-66232400	Weak transcription	Thymus	Thymus
21	chr7:66208000-66236800	Weak transcription	Dnd41	blood
22	chr7:66208000-66238000	Weak transcription	A549	lung
23	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
25	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
26	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
27	chr7:66209400-66239000	Weak transcription	HMEC	breast
28	chr7:66211000-66223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:66211000-66228600	Weak transcription	Fetal Lung	lung
30	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:66213200-66234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:66213400-66230600	Weak transcription	NH-A	brain
33	chr7:66213800-66220600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:66214000-66223400	Weak transcription	Small Intestine	intestine
35	chr7:66214200-66223000	Weak transcription	Primary B cells from cord blood	blood
36	chr7:66214200-66223200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:66214200-66224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:66214200-66224000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:66214200-66225800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:66214200-66234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:66214400-66221000	Weak transcription	NHDF-Ad	bronchial
42	chr7:66214400-66223000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:66214400-66223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:66214400-66223400	Weak transcription	HSMM	muscle
45	chr7:66214400-66225000	Weak transcription	Ovary	ovary
46	chr7:66214400-66229600	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:66214400-66234200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:66214400-66236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:66214400-66239400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:66214600-66220600	Weak transcription	Osteobl	bone

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