Variant report

Variant	rs34878104
Chromosome Location	chr7:137623120-137623121
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	chr7:137617546..137619620-chr7:137622048..137624188,2	MCF-7	breast:
2	chr7:137621450..137623446-chr7:137630610..137633140,2	K562	blood:

Variant related genes	Relation type
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10224250	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488443	0.82[ASN][1000 genomes]
rs12533090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536683	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17275136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100060	0.86[AFR][1000 genomes]
rs34786382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34814437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732274	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777412	0.83[AMR][1000 genomes]
rs7812168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	chr7:137620600-137625400	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	chr7:137621600-137624400	Weak transcription	Spleen	Spleen
13	chr7:137621600-137626800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:137621800-137628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:137621800-137629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:137622000-137624200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:137622000-137625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:137622000-137625000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:137622000-137625400	Weak transcription	Psoas Muscle	Psoas
21	chr7:137622000-137625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:137622000-137626200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:137622000-137627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:137622000-137627400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:137622000-137627600	Weak transcription	Primary B cells from cord blood	blood
26	chr7:137622000-137627600	Weak transcription	Colonic Mucosa	Colon
27	chr7:137622000-137627600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:137622200-137623400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:137622200-137624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:137622200-137624000	Weak transcription	Fetal Heart	heart
32	chr7:137622200-137624000	Weak transcription	Fetal Intestine Large	intestine
33	chr7:137622200-137624000	Weak transcription	Pancreas	Pancrea
34	chr7:137622200-137624000	Weak transcription	Right Atrium	heart
35	chr7:137622200-137624200	Weak transcription	Aorta	Aorta
36	chr7:137622200-137624400	Weak transcription	Fetal Intestine Small	intestine
37	chr7:137622200-137624400	Weak transcription	Right Ventricle	heart
38	chr7:137622200-137624600	Weak transcription	Liver	Liver
39	chr7:137622200-137624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:137622200-137624800	Weak transcription	HSMMtube	muscle
41	chr7:137622200-137624800	Weak transcription	NH-A	brain
42	chr7:137622200-137625000	Weak transcription	Small Intestine	intestine
43	chr7:137622200-137625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:137622200-137625400	Weak transcription	Gastric	stomach
45	chr7:137622200-137625400	Weak transcription	HSMM	muscle
46	chr7:137622200-137625600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:137622200-137625600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:137622200-137625600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:137622200-137625600	Weak transcription	Lung	lung
50	chr7:137622200-137626000	Weak transcription	Fetal Stomach	stomach

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