Variant report

Variant	rs56162214
Chromosome Location	chr7:104686970-104686971
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104680385..104683301-chr7:104683670..104687526,4	K562	blood:
2	chr7:104684090..104689143-chr7:104690596..104695842,7	K562	blood:
3	chr7:104679059..104683301-chr7:104684929..104688094,8	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55638165	1.00[AMR][1000 genomes]
rs55715849	1.00[AMR][1000 genomes]
rs56361562	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56890093	1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051326	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	1.00[AMR][1000 genomes]
rs57741635	1.00[AMR][1000 genomes]
rs58404848	1.00[AMR][1000 genomes]
rs60436179	1.00[AMR][1000 genomes]
rs61102011	1.00[AMR][1000 genomes]
rs61280887	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73421710	1.00[AMR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73715440	1.00[AMR][1000 genomes]
rs73715442	1.00[AMR][1000 genomes]
rs73715443	1.00[AMR][1000 genomes]
rs73715444	1.00[AMR][1000 genomes]
rs73715445	1.00[AMR][1000 genomes]
rs73715447	1.00[AMR][1000 genomes]
rs73715450	1.00[AMR][1000 genomes]
rs73715543	1.00[AMR][1000 genomes]
rs73716461	1.00[AMR][1000 genomes]
rs73716462	1.00[AMR][1000 genomes]
rs73716469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717956	1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][1000 genomes]
rs73718215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718216	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718218	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718222	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:104675000-104694200	Weak transcription	Spleen	Spleen
4	chr7:104675000-104694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:104676400-104687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:104678000-104812200	Strong transcription	Dnd41	blood
8	chr7:104678200-104688400	Weak transcription	Gastric	stomach
9	chr7:104679600-104695800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
11	chr7:104680800-104688600	Strong transcription	Placenta	Placenta
12	chr7:104680800-104697400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:104681000-104691000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:104681200-104687200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:104681200-104689800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:104681200-104689800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:104681200-104690200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:104681200-104691400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:104681200-104692000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:104681200-104692800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:104681200-104697000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:104681200-104698400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:104681200-104698600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:104681200-104699200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:104681400-104687400	Weak transcription	Right Atrium	heart
28	chr7:104681400-104695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:104681800-104695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:104681800-104696000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:104682000-104687000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:104682200-104694200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:104682800-104688400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:104682800-104700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:104683200-104696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:104684000-104687200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:104684000-104688600	Strong transcription	GM12878-XiMat	blood
39	chr7:104684200-104688800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:104684200-104689400	Strong transcription	HepG2	liver
41	chr7:104684200-104689600	Strong transcription	Brain Germinal Matrix	brain
42	chr7:104684200-104690000	Strong transcription	Fetal Intestine Large	intestine
43	chr7:104684200-104690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:104684400-104688800	Strong transcription	Fetal Brain Female	brain
45	chr7:104684400-104689600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:104684600-104687000	Strong transcription	Fetal Lung	lung
47	chr7:104684600-104688600	Strong transcription	Hela-S3	cervix
48	chr7:104684600-104691000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:104684800-104687800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:104684800-104688200	Genic enhancers	NHDF-Ad	bronchial

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