Variant report

Variant	rs7805310
Chromosome Location	chr7:50837004-50837005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50831271..50832774-chr7:50836128..50838044,2	K562	blood:
2	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:
3	chr7:50834041..50837996-chr7:50859148..50861834,4	K562	blood:
4	chr7:50835924..50838616-chr7:50888475..50890860,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10273302	0.92[CHB][hapmap]
rs10278363	1.00[CHB][hapmap]
rs10486759	0.95[AMR][1000 genomes]
rs11238339	0.92[CHB][hapmap]
rs12665949	0.92[CHB][hapmap]
rs13236710	0.85[JPT][hapmap];0.85[MEX][hapmap];0.88[AMR][1000 genomes]
rs17152120	0.85[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2074723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286153	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299154	0.82[AMR][1000 genomes]
rs2299155	0.82[AMR][1000 genomes]
rs34061103	0.85[AMR][1000 genomes]
rs35574823	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4947861	1.00[CHB][hapmap]
rs55642644	0.85[EUR][1000 genomes]
rs55737098	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55756207	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55842511	0.95[AMR][1000 genomes]
rs55986073	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56037894	0.82[AMR][1000 genomes]
rs56080719	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56852197	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60877714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61552283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593182	1.00[CHB][hapmap]
rs71540258	0.85[AMR][1000 genomes]
rs71540259	0.83[AMR][1000 genomes]
rs73117851	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349015	0.82[AMR][1000 genomes]
rs740155	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7790423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
2	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
9	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:50826000-50839000	Weak transcription	Ovary	ovary
11	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:50828800-50837200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:50829800-50838200	Weak transcription	Aorta	Aorta
14	chr7:50829800-50838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:50829800-50849400	Weak transcription	Osteobl	bone
16	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
18	chr7:50831800-50837200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50832400-50837200	Weak transcription	Fetal Stomach	stomach
20	chr7:50833200-50850200	Weak transcription	HSMM	muscle
21	chr7:50833400-50837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain
23	chr7:50833600-50838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:50834200-50837200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:50834400-50837600	Enhancers	K562	blood
26	chr7:50834400-50838200	Enhancers	Left Ventricle	heart
27	chr7:50834400-50838800	Weak transcription	HepG2	liver
28	chr7:50834400-50840200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:50834600-50839000	Weak transcription	Fetal Heart	heart
30	chr7:50834600-50839000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:50834600-50839000	Weak transcription	Stomach Mucosa	stomach
32	chr7:50834800-50837800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:50834800-50837800	Enhancers	Spleen	Spleen
34	chr7:50834800-50838200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:50834800-50838400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:50834800-50839600	Enhancers	Lung	lung
37	chr7:50834800-50839600	Enhancers	Right Atrium	heart
38	chr7:50834800-50839800	Weak transcription	Brain Germinal Matrix	brain
39	chr7:50834800-50840000	Enhancers	Pancreas	Pancrea
40	chr7:50834800-50840000	Enhancers	Right Ventricle	heart
41	chr7:50834800-50840200	Enhancers	Liver	Liver
42	chr7:50834800-50840200	Enhancers	Psoas Muscle	Psoas
43	chr7:50835000-50838600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:50835000-50839600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:50835200-50838800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:50835200-50838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:50835200-50847800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:50835200-50848200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:50835200-50849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:50835400-50838000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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