Variant report

Variant	rs273998
Chromosome Location	chr7:137631791-137631792
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	chr7:137621450..137623446-chr7:137630610..137633140,2	K562	blood:
2	chr7:137617789..137620376-chr7:137631763..137634379,2	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs110595	0.80[EUR][1000 genomes]
rs112417	0.86[JPT][hapmap]
rs273975	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs273977	0.86[JPT][hapmap]
rs273978	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs273979	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs273980	0.84[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs273981	0.86[JPT][hapmap]
rs273983	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs273984	0.86[JPT][hapmap]
rs273985	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs273987	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs273988	0.86[JPT][hapmap]
rs273989	0.86[JPT][hapmap]
rs273990	0.86[JPT][hapmap]
rs273991	0.86[JPT][hapmap]
rs273992	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs273994	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs273995	0.86[JPT][hapmap]
rs273999	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274000	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274001	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs274002	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs274003	0.93[JPT][hapmap]
rs274004	1.00[JPT][hapmap]
rs274005	0.92[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs274008	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs274009	0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs274010	0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs274012	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs274015	0.93[ASN][1000 genomes]
rs28634773	0.89[ASN][1000 genomes]
rs9886131	0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][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	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3331245	chr7:137630762-137632760	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3323491	chr7:137631212-137632410	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
8	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:137626000-137632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:137626000-137637000	Weak transcription	NHEK	skin
17	chr7:137626000-137646200	Weak transcription	HMEC	breast
18	chr7:137626400-137631800	Weak transcription	Lung	lung
19	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:137627800-137632200	Weak transcription	Right Ventricle	heart
23	chr7:137628200-137632200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:137628200-137637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:137628400-137635200	Weak transcription	GM12878-XiMat	blood
26	chr7:137628600-137632600	Weak transcription	Right Atrium	heart
27	chr7:137628600-137633800	Weak transcription	Left Ventricle	heart
28	chr7:137628600-137637200	Weak transcription	Colonic Mucosa	Colon
29	chr7:137628800-137632600	Weak transcription	Psoas Muscle	Psoas
30	chr7:137628800-137636400	Weak transcription	Ovary	ovary
31	chr7:137628800-137636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:137628800-137638600	Weak transcription	HUVEC	blood vessel
33	chr7:137629000-137631800	Weak transcription	Small Intestine	intestine
34	chr7:137629000-137633200	Weak transcription	Fetal Heart	heart
35	chr7:137629000-137633600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:137629000-137634800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:137629000-137638000	Weak transcription	Adipose Nuclei	Adipose
38	chr7:137629200-137631800	Weak transcription	Stomach Mucosa	stomach
39	chr7:137629200-137632600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:137629200-137632600	Weak transcription	A549	lung
41	chr7:137629200-137633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:137629200-137633400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:137629200-137633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:137629200-137634600	Weak transcription	Primary B cells from cord blood	blood
45	chr7:137629200-137635000	Weak transcription	NHLF	lung
46	chr7:137629200-137637000	Weak transcription	Fetal Stomach	stomach
47	chr7:137629200-137638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:137629200-137638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:137629400-137632200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:137629400-137632800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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