Variant report

Variant	rs34781815
Chromosome Location	chr7:97800936-97800937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97800302..97806333-chr7:97806427..97810893,6	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11972730	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975025	0.87[AFR][1000 genomes]
rs57722543	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710381	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801333	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:97763400-97821000	Weak transcription	NHLF	lung
3	chr7:97763600-97814200	Weak transcription	Osteobl	bone
4	chr7:97763600-97815800	Weak transcription	HSMM	muscle
5	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
6	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:97768800-97807000	Weak transcription	Stomach Mucosa	stomach
8	chr7:97772400-97821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:97775600-97803600	Weak transcription	K562	blood
10	chr7:97781800-97808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:97782400-97803600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:97782400-97819000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:97782400-97822000	Weak transcription	Fetal Kidney	kidney
14	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
15	chr7:97782600-97807400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:97784600-97815000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:97785000-97801000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:97785000-97804000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:97785200-97818600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:97785400-97804600	Weak transcription	NHDF-Ad	bronchial
21	chr7:97785400-97804800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:97785600-97804200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:97786800-97801200	Weak transcription	Placenta	Placenta
24	chr7:97787400-97801000	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:97787400-97808200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:97787400-97822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:97789000-97803800	Weak transcription	Brain Germinal Matrix	brain
28	chr7:97789200-97801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:97789200-97801000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:97789200-97803600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:97789200-97803600	Weak transcription	Fetal Brain Female	brain
32	chr7:97789200-97829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:97789400-97801000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:97789400-97802200	Weak transcription	Left Ventricle	heart
35	chr7:97789400-97803600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:97789600-97801600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:97790000-97801000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:97790200-97804200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:97790600-97801000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:97792400-97804000	Weak transcription	GM12878-XiMat	blood
41	chr7:97792600-97804000	Weak transcription	Primary B cells from cord blood	blood
42	chr7:97793200-97822400	Weak transcription	Small Intestine	intestine
43	chr7:97793400-97818200	Weak transcription	Fetal Lung	lung
44	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:97793800-97801200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:97793800-97803800	Weak transcription	A549	lung
47	chr7:97793800-97815600	Weak transcription	HUVEC	blood vessel
48	chr7:97794000-97803600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:97794000-97803800	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:97794800-97801000	Weak transcription	Hela-S3	cervix

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