Variant report

Variant	rs35228894
Chromosome Location	chr5:7858523-7858524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7849544..7853202-chr5:7856682..7860407,3	K562	blood:
2	chr5:7853828..7855824-chr5:7856209..7859029,2	K562	blood:
3	chr5:7856634..7862841-chr5:7863423..7866521,7	MCF-7	breast:
4	chr5:7826263..7828308-chr5:7856719..7858613,3	K562	blood:
5	chr5:7857476..7859602-chr5:7864063..7866187,3	K562	blood:

Variant related genes	Relation type
ENSG00000215217	Chromatin interaction
ENSG00000124275	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10512931	1.00[EUR][1000 genomes]
rs13154074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13161857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13163930	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1384232	1.00[EUR][1000 genomes]
rs161875	1.00[EUR][1000 genomes]
rs162042	1.00[EUR][1000 genomes]
rs162043	1.00[EUR][1000 genomes]
rs162044	1.00[EUR][1000 genomes]
rs162046	1.00[EUR][1000 genomes]
rs162052	1.00[EUR][1000 genomes]
rs162053	1.00[EUR][1000 genomes]
rs162271	1.00[EUR][1000 genomes]
rs326208	1.00[EUR][1000 genomes]
rs327579	1.00[EUR][1000 genomes]
rs327580	1.00[EUR][1000 genomes]
rs327584	1.00[EUR][1000 genomes]
rs327585	1.00[EUR][1000 genomes]
rs327593	1.00[EUR][1000 genomes]
rs41282643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71604190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71604198	0.82[EUR][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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851200-7859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:7851400-7859600	Weak transcription	Esophagus	oesophagus
3	chr5:7851400-7860000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:7851600-7859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:7851600-7859200	Weak transcription	Fetal Brain Female	brain
6	chr5:7851600-7859800	Weak transcription	Psoas Muscle	Psoas
7	chr5:7851600-7859800	Weak transcription	Right Ventricle	heart
8	chr5:7851600-7860000	Weak transcription	Aorta	Aorta
9	chr5:7851600-7861600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:7851600-7861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:7851600-7865000	Weak transcription	Small Intestine	intestine
12	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
13	chr5:7851800-7859200	Weak transcription	HMEC	breast
14	chr5:7851800-7859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:7851800-7861800	Weak transcription	Brain Substantia Nigra	brain
16	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:7852200-7867600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:7852200-7868400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:7852200-7868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:7852200-7868400	Weak transcription	Gastric	stomach
21	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:7852400-7859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:7852400-7859800	Weak transcription	Spleen	Spleen
24	chr5:7852400-7861000	Weak transcription	HepG2	liver
25	chr5:7852400-7867800	Weak transcription	Fetal Brain Male	brain
26	chr5:7852600-7858600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:7852800-7859200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:7852800-7859400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:7852800-7862000	Weak transcription	Lung	lung
30	chr5:7852800-7868400	Weak transcription	Pancreas	Pancrea
31	chr5:7853000-7858600	Weak transcription	NHDF-Ad	bronchial
32	chr5:7853400-7860000	Weak transcription	Fetal Intestine Small	intestine
33	chr5:7853400-7861800	Weak transcription	Ovary	ovary
34	chr5:7853400-7862200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:7853600-7859600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:7854000-7861800	Weak transcription	HUVEC	blood vessel
37	chr5:7854000-7868400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:7855200-7858600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:7855200-7859400	Weak transcription	Placenta	Placenta
40	chr5:7855200-7859600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:7855200-7859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:7855400-7859400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:7855400-7859600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:7855600-7860800	Weak transcription	Colonic Mucosa	Colon
45	chr5:7855800-7859400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:7856000-7859200	Weak transcription	HSMMtube	muscle
47	chr5:7856000-7860800	Weak transcription	NHEK	skin
48	chr5:7856000-7868400	Weak transcription	Stomach Mucosa	stomach
49	chr5:7856400-7859800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:7856600-7867600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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