Variant report

Variant	rs34742251
Chromosome Location	chr7:128130546-128130547
allele	C/T
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	chr7:128130543-128130830	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
METTL2B	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11761662	0.86[CEU][hapmap]
rs11767993	0.83[EUR][1000 genomes]
rs11770604	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs12530672	0.86[CEU][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs12532513	0.81[EUR][1000 genomes]
rs13233642	0.82[EUR][1000 genomes]
rs2288558	0.83[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs57890423	0.85[EUR][1000 genomes]
rs71546775	0.85[EUR][1000 genomes]
rs7798776	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34742251	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs34742251	CICP14	cis	Nerve Tibial	GTEx
rs34742251	RP11-274B21.10	cis	Thyroid	GTEx
rs34742251	METTL2B	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117400-128136000	Weak transcription	Aorta	Aorta
2	chr7:128117600-128134000	Weak transcription	Ovary	ovary
3	chr7:128117600-128135800	Weak transcription	Esophagus	oesophagus
4	chr7:128117800-128133600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:128117800-128133800	Weak transcription	Thymus	Thymus
6	chr7:128117800-128134600	Weak transcription	Gastric	stomach
7	chr7:128117800-128135800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:128117800-128136200	Weak transcription	Stomach Mucosa	stomach
9	chr7:128117800-128137200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:128117800-128137200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:128117800-128140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:128117800-128140800	Weak transcription	Psoas Muscle	Psoas
13	chr7:128117800-128141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:128117800-128142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
16	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:128118000-128133800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:128118000-128135600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:128118000-128136000	Weak transcription	Small Intestine	intestine
20	chr7:128118000-128136600	Weak transcription	Right Ventricle	heart
21	chr7:128118000-128137200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:128118000-128137200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:128118000-128137400	Weak transcription	NHLF	lung
24	chr7:128118000-128137800	Weak transcription	Fetal Kidney	kidney
25	chr7:128118000-128139800	Weak transcription	HSMM	muscle
26	chr7:128118000-128141000	Weak transcription	Colonic Mucosa	Colon
27	chr7:128118000-128141800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:128118000-128146400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:128118000-128146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:128118200-128146400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:128118400-128134000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:128118400-128134000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:128118400-128147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:128119200-128141400	Weak transcription	HUVEC	blood vessel
35	chr7:128119600-128142000	Weak transcription	Fetal Brain Male	brain
36	chr7:128120000-128134200	Weak transcription	Fetal Lung	lung
37	chr7:128120000-128137200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:128120000-128139200	Weak transcription	GM12878-XiMat	blood
39	chr7:128120800-128136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:128121400-128133800	Weak transcription	Primary B cells from cord blood	blood
41	chr7:128121400-128133800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:128121400-128147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:128121600-128134000	Weak transcription	Spleen	Spleen
44	chr7:128121800-128133600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:128121800-128143800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:128122000-128135800	Weak transcription	NH-A	brain
47	chr7:128122000-128155400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:128122200-128133600	Weak transcription	Fetal Thymus	thymus
49	chr7:128122200-128135400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:128122200-128135800	Weak transcription	HMEC	breast

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