Variant report

Variant	rs34959248
Chromosome Location	chr7:108158317-108158318
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	chr7:108154890..108162900-chr7:108163401..108168908,16	K562	blood:
2	chr7:108152047..108154125-chr7:108156232..108158415,2	K562	blood:

Variant related genes	Relation type
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11971386	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11983802	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11983842	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530879	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12538539	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12540029	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12705474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13239792	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16872576	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16872577	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34164886	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34459886	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34771129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34827770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34915298	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35220845	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35444439	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3752639	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763460	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763463	0.91[EUR][1000 genomes]
rs60117684	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6964631	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980319	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71568523	0.89[EUR][1000 genomes]
rs71568529	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71568531	0.90[ASN][1000 genomes]
rs71568533	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786180	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9641410	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
2	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:108113800-108165800	Weak transcription	Gastric	stomach
4	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
5	chr7:108114400-108160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:108130000-108165000	Weak transcription	Pancreas	Pancrea
8	chr7:108130200-108162000	Weak transcription	Hela-S3	cervix
9	chr7:108130800-108165000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:108132800-108158400	Weak transcription	A549	lung
11	chr7:108136000-108163000	Weak transcription	HepG2	liver
12	chr7:108141400-108165000	Weak transcription	Spleen	Spleen
13	chr7:108142000-108161600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:108142800-108159800	Weak transcription	Ovary	ovary
15	chr7:108144400-108162200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:108144600-108164000	Weak transcription	Fetal Brain Male	brain
17	chr7:108147600-108164400	Weak transcription	Stomach Mucosa	stomach
18	chr7:108148200-108163000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:108148200-108165000	Weak transcription	Fetal Stomach	stomach
20	chr7:108149400-108165600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:108150400-108160400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:108150600-108159000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:108150800-108160200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:108150800-108162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:108150800-108162800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:108152000-108160800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:108152200-108158400	Weak transcription	GM12878-XiMat	blood
28	chr7:108152400-108158400	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:108152400-108163000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:108152400-108163600	Weak transcription	NHDF-Ad	bronchial
31	chr7:108152400-108164200	Weak transcription	HMEC	breast
32	chr7:108152600-108158400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr7:108152600-108158400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:108153000-108158600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:108153600-108165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:108154400-108159000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:108155000-108161800	Weak transcription	Brain Angular Gyrus	brain
38	chr7:108155200-108158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:108155200-108158400	Weak transcription	Small Intestine	intestine
40	chr7:108155400-108158400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:108155800-108158400	Weak transcription	HSMM	muscle
42	chr7:108156000-108163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:108156000-108164600	Weak transcription	HUVEC	blood vessel
44	chr7:108156800-108162600	Strong transcription	Primary B cells from cord blood	blood
45	chr7:108157000-108160000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:108157000-108160600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:108157200-108159200	Strong transcription	Fetal Intestine Large	intestine
48	chr7:108157200-108160600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:108157400-108158800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:108157400-108161000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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