Variant report

Variant	rs273988
Chromosome Location	chr7:137624559-137624560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137593114..137594861-chr7:137623750..137626523,2	MCF-7	breast:
2	chr7:137624157..137626644-chr7:137626697..137629114,2	K562	blood:
3	chr7:137623354..137625845-chr7:137684386..137688183,3	K562	blood:
4	chr7:137624266..137626271-chr7:137687037..137689375,2	MCF-7	breast:
5	chr7:137616778..137619340-chr7:137624073..137626250,2	K562	blood:
6	chr7:137624395..137627192-chr7:137647019..137649301,2	K562	blood:
7	chr7:137620168..137621846-chr7:137623700..137626526,2	K562	blood:

Variant related genes	Relation type
ENSG00000122787	Chromatin interaction
ENSG00000182158	Chromatin interaction

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

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

rs_ID	r²[population]
rs110595	0.85[ASN][1000 genomes]
rs112417	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273973	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs273974	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs273975	0.81[JPT][hapmap]
rs273976	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs273977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273978	0.87[JPT][hapmap]
rs273979	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273980	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273981	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273983	0.87[JPT][hapmap]
rs273984	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273986	0.89[ASN][1000 genomes]
rs273987	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273989	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273990	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273992	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273994	0.87[JPT][hapmap]
rs273995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273998	0.86[JPT][hapmap]
rs274000	0.87[JPT][hapmap]
rs274001	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs274002	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs274003	0.89[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs274004	0.85[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs274005	0.81[JPT][hapmap]
rs274007	0.85[CEU][hapmap]
rs274008	0.81[JPT][hapmap]
rs274009	0.81[JPT][hapmap]
rs274010	0.81[JPT][hapmap]
rs7795277	0.84[EUR][1000 genomes]
rs9886131	0.81[JPT][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:97 , 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	chr7:137620600-137625400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:137621200-137626000	Enhancers	HepG2	liver
10	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:137621600-137626800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:137621800-137628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:137621800-137629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:137622000-137625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:137622000-137625000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:137622000-137625400	Weak transcription	Psoas Muscle	Psoas
19	chr7:137622000-137625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:137622000-137626200	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:137622000-137627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:137622000-137627400	Weak transcription	Brain Angular Gyrus	brain
23	chr7:137622000-137627600	Weak transcription	Primary B cells from cord blood	blood
24	chr7:137622000-137627600	Weak transcription	Colonic Mucosa	Colon
25	chr7:137622000-137627600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:137622200-137624600	Weak transcription	Liver	Liver
28	chr7:137622200-137624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:137622200-137624800	Weak transcription	HSMMtube	muscle
30	chr7:137622200-137624800	Weak transcription	NH-A	brain
31	chr7:137622200-137625000	Weak transcription	Small Intestine	intestine
32	chr7:137622200-137625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:137622200-137625400	Weak transcription	Gastric	stomach
34	chr7:137622200-137625400	Weak transcription	HSMM	muscle
35	chr7:137622200-137625600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:137622200-137625600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:137622200-137625600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:137622200-137625600	Weak transcription	Lung	lung
39	chr7:137622200-137626000	Weak transcription	Fetal Stomach	stomach
40	chr7:137622200-137627000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:137622200-137627600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:137622200-137627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:137622200-137628000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:137622200-137628000	Weak transcription	Fetal Lung	lung
45	chr7:137622200-137628000	Weak transcription	HUVEC	blood vessel
46	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
47	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:137622400-137624600	Weak transcription	Stomach Mucosa	stomach
50	chr7:137622400-137624800	Weak transcription	Colon Smooth Muscle	Colon

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