Variant report

Variant	rs273985
Chromosome Location	chr7:137622884-137622885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr7:137622720-137622991	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137617546..137619620-chr7:137622048..137624188,2	MCF-7	breast:
2	chr7:137621450..137623446-chr7:137630610..137633140,2	K562	blood:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs110595	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273972	0.83[AMR][1000 genomes]
rs273975	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs273978	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs273979	0.85[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273980	0.85[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273983	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs273986	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273987	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273992	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs273994	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273998	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs273999	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274000	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274001	0.92[CHB][hapmap];0.80[EUR][1000 genomes]
rs274002	0.85[CHB][hapmap]
rs274003	0.81[JPT][hapmap]
rs274005	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs274008	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs274009	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs274010	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs274012	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs274015	0.84[ASN][1000 genomes]
rs28634773	0.81[ASN][1000 genomes]
rs9886131	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:137618600-137627600	Weak transcription	A549	lung
5	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:137619400-137628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:137620000-137625600	Weak transcription	NHEK	skin
8	chr7:137620600-137623000	Enhancers	NHDF-Ad	bronchial
9	chr7:137620600-137625400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:137621200-137623000	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:137621200-137626000	Enhancers	HepG2	liver
12	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:137621600-137624400	Weak transcription	Spleen	Spleen
15	chr7:137621600-137626800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:137621800-137628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:137621800-137629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:137622000-137624200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:137622000-137625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:137622000-137625000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:137622000-137625400	Weak transcription	Psoas Muscle	Psoas
23	chr7:137622000-137625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:137622000-137626200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:137622000-137627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:137622000-137627400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:137622000-137627600	Weak transcription	Primary B cells from cord blood	blood
28	chr7:137622000-137627600	Weak transcription	Colonic Mucosa	Colon
29	chr7:137622000-137627600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:137622200-137623000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:137622200-137623000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:137622200-137623400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:137622200-137624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:137622200-137624000	Weak transcription	Fetal Heart	heart
36	chr7:137622200-137624000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:137622200-137624000	Weak transcription	Pancreas	Pancrea
38	chr7:137622200-137624000	Weak transcription	Right Atrium	heart
39	chr7:137622200-137624200	Weak transcription	Aorta	Aorta
40	chr7:137622200-137624400	Weak transcription	Fetal Intestine Small	intestine
41	chr7:137622200-137624400	Weak transcription	Right Ventricle	heart
42	chr7:137622200-137624600	Weak transcription	Liver	Liver
43	chr7:137622200-137624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:137622200-137624800	Weak transcription	HSMMtube	muscle
45	chr7:137622200-137624800	Weak transcription	NH-A	brain
46	chr7:137622200-137625000	Weak transcription	Small Intestine	intestine
47	chr7:137622200-137625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:137622200-137625400	Weak transcription	Gastric	stomach
49	chr7:137622200-137625400	Weak transcription	HSMM	muscle
50	chr7:137622200-137625600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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