Variant report

Variant	rs698942
Chromosome Location	chr1:95017247-95017248
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	chr1:95005939..95010305-chr1:95012395..95021281,11	MCF-7	breast:
2	chr1:95007066..95011283-chr1:95013175..95017472,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117525	Chromatin interaction

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

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

rs_ID	r²[population]
rs11799679	1.00[AMR][1000 genomes]
rs11809823	1.00[AMR][1000 genomes]
rs3917637	1.00[AMR][1000 genomes]
rs6689929	1.00[AMR][1000 genomes]
rs6701812	1.00[AMR][1000 genomes]
rs698946	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs841699	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs863988	1.00[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	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95008200-95018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:95008200-95019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:95010200-95017600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:95010400-95017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:95011000-95019000	Weak transcription	HSMM	muscle
6	chr1:95011600-95018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:95011600-95025400	Weak transcription	NHLF	lung
8	chr1:95013600-95022000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:95014000-95017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:95014600-95018800	Enhancers	NHEK	skin
11	chr1:95014600-95022400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:95014800-95022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:95014800-95022200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95014800-95022200	Enhancers	HMEC	breast
15	chr1:95015000-95019200	Enhancers	Stomach Mucosa	stomach
16	chr1:95015400-95018200	Enhancers	Fetal Intestine Large	intestine
17	chr1:95015600-95018400	Enhancers	Pancreas	Pancrea
18	chr1:95015600-95020400	Enhancers	Fetal Intestine Small	intestine
19	chr1:95015600-95022200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:95015800-95021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:95016000-95018000	Enhancers	Fetal Kidney	kidney
22	chr1:95016000-95020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:95016200-95021000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:95016400-95017400	Weak transcription	Fetal Stomach	stomach
25	chr1:95016400-95017800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:95016600-95017400	Weak transcription	Fetal Heart	heart
27	chr1:95016600-95017600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:95016600-95018600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:95016600-95018800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:95016600-95020800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:95016600-95025000	Weak transcription	Right Atrium	heart
32	chr1:95016800-95017400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:95016800-95017800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:95016800-95017800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:95016800-95018800	Weak transcription	HSMMtube	muscle
36	chr1:95016800-95021600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:95017000-95020600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:95017000-95020800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:95017200-95017400	Enhancers	Esophagus	oesophagus
40	chr1:95017200-95017400	Enhancers	Gastric	stomach
41	chr1:95017200-95017400	Enhancers	Right Ventricle	heart
42	chr1:95017200-95017600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr1:95017200-95017600	Weak transcription	Fetal Lung	lung
44	chr1:95017200-95018200	Enhancers	Placenta	Placenta
45	chr1:95017200-95018200	Enhancers	Left Ventricle	heart
46	chr1:95017200-95018200	Flanking Active TSS	HepG2	liver
47	chr1:95017200-95018400	Enhancers	Lung	lung
48	chr1:95017200-95018600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:95017200-95019000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:95017200-95019000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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