Variant report

Variant	rs4750617
Chromosome Location	chr10:6606334-6606335
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6604463..6608131-chr10:6610996..6613327,3	K562	blood:
2	chr10:6604463..6606991-chr10:6610996..6612929,2	K562	blood:
3	chr10:6597741..6599502-chr10:6604927..6608310,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10752356	0.80[EUR][1000 genomes]
rs10752357	0.80[EUR][1000 genomes]
rs10796268	0.80[EUR][1000 genomes]
rs1327245	0.80[EUR][1000 genomes]
rs1327246	0.80[EUR][1000 genomes]
rs1327247	0.80[EUR][1000 genomes]
rs1541032	0.80[EUR][1000 genomes]
rs1998939	0.80[EUR][1000 genomes]
rs1998940	0.80[EUR][1000 genomes]
rs2011261	0.80[EUR][1000 genomes]
rs6602825	0.80[EUR][1000 genomes]
rs7916931	0.80[EUR][1000 genomes]
rs943446	0.80[EUR][1000 genomes]
rs943448	0.80[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	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv549912	chr10:6566975-6629225	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6598000-6608000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:6598000-6612000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:6598600-6606800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:6603200-6610200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr10:6603600-6608400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:6603600-6608800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:6603800-6606600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr10:6604000-6606600	Enhancers	Duodenum Mucosa	Duodenum
9	chr10:6604000-6607800	Enhancers	Thymus	Thymus
10	chr10:6604000-6608600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr10:6604200-6606600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:6604600-6606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr10:6604800-6606400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:6604800-6606800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:6605000-6606400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:6605000-6606600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:6605000-6607400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:6605200-6606600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:6605200-6606600	Enhancers	Lung	lung
20	chr10:6605200-6608200	Enhancers	Fetal Thymus	thymus
21	chr10:6605400-6606400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:6605400-6606600	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:6605400-6606600	Enhancers	Psoas Muscle	Psoas
24	chr10:6605400-6606600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr10:6605400-6606600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:6605400-6607000	Weak transcription	Primary B cells from cord blood	blood
27	chr10:6605400-6610400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:6605400-6621200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:6605600-6616600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:6605600-6618400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr10:6605800-6606400	Enhancers	Spleen	Spleen
32	chr10:6605800-6606600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr10:6605800-6609600	Genic enhancers	Primary T cells from cord blood	blood
34	chr10:6606000-6606400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:6606000-6606600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr10:6606000-6606600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr10:6606000-6607000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr10:6606000-6607200	Enhancers	Dnd41	blood
39	chr10:6606000-6607600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:6606000-6609400	Weak transcription	Esophagus	oesophagus
41	chr10:6606000-6610200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:6606000-6612200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr10:6606000-6614600	Weak transcription	Fetal Intestine Small	intestine
44	chr10:6606200-6606400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:6606200-6606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:6606200-6606600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:6606200-6606800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr10:6606200-6606800	Enhancers	Fetal Lung	lung
49	chr10:6606200-6607200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr10:6606200-6620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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