Variant report

Variant	rs6942614
Chromosome Location	chr7:39669256-39669257
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	chr7:39650430..39653003-chr7:39667356..39670007,2	K562	blood:
2	chr7:39659213..39661444-chr7:39666943..39669270,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16870185	0.88[AFR][1000 genomes]
rs4720332	0.88[AFR][1000 genomes]
rs59434915	0.91[AFR][1000 genomes]
rs6948816	0.94[AFR][1000 genomes]
rs6949371	0.86[AFR][1000 genomes]
rs73689214	0.88[AFR][1000 genomes]
rs73689252	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39664400-39670000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:39664400-39672200	Weak transcription	Pancreas	Pancrea
3	chr7:39664400-39674600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:39664400-39674600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:39664400-39674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:39664400-39678400	Weak transcription	Placenta	Placenta
7	chr7:39664400-39679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:39664800-39671000	Weak transcription	Gastric	stomach
9	chr7:39664800-39671400	Weak transcription	Fetal Thymus	thymus
10	chr7:39664800-39671400	Weak transcription	Spleen	Spleen
11	chr7:39664800-39671600	Weak transcription	Aorta	Aorta
12	chr7:39664800-39673200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:39665000-39669800	Weak transcription	Primary B cells from cord blood	blood
14	chr7:39665000-39673600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:39665200-39669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:39665200-39669600	Weak transcription	Fetal Stomach	stomach
17	chr7:39665200-39670000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:39665200-39671400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:39665200-39672000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:39665200-39672600	Weak transcription	Thymus	Thymus
21	chr7:39665200-39677800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:39665400-39669600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:39665400-39671200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:39665400-39672200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:39665400-39679800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:39665600-39673400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:39665600-39680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:39665600-39682200	Weak transcription	Liver	Liver
29	chr7:39666000-39669800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:39666200-39669600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:39666200-39669600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:39666200-39669800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:39666200-39671400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:39666200-39671400	Weak transcription	Lung	lung
35	chr7:39666200-39673200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:39666200-39674000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:39666200-39678200	Weak transcription	Brain Germinal Matrix	brain
38	chr7:39666200-39679000	Weak transcription	Esophagus	oesophagus
39	chr7:39666200-39681800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:39666200-39694400	Weak transcription	Fetal Brain Female	brain
41	chr7:39666400-39669600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:39666400-39671400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:39666400-39671400	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:39666400-39671400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:39666400-39672000	Weak transcription	Fetal Brain Male	brain
46	chr7:39666600-39670200	Weak transcription	Dnd41	blood
47	chr7:39666600-39671400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:39666800-39681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:39667200-39669600	Weak transcription	GM12878-XiMat	blood
50	chr7:39667200-39698800	Weak transcription	Fetal Kidney	kidney

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