Variant report

Variant	rs6453230
Chromosome Location	chr5:75820998-75820999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75816896..75819004-chr5:75820235..75822172,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2069698	1.00[YRI][hapmap]
rs4145111	1.00[JPT][hapmap]
rs4544808	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4639192	1.00[YRI][hapmap]
rs4703711	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704320	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704321	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6453229	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872396	1.00[JPT][hapmap]
rs7711193	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9293686	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75806800-75834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:75806800-75839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:75810600-75828400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:75815000-75829000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:75815200-75822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:75815200-75828000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:75816200-75821000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:75816400-75826800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:75816800-75821200	Enhancers	Stomach Mucosa	stomach
10	chr5:75817200-75822800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:75817600-75821000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:75817600-75821400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:75817600-75822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:75817600-75822400	Weak transcription	Placenta	Placenta
15	chr5:75817600-75823000	Weak transcription	K562	blood
16	chr5:75817800-75821400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:75817800-75827800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:75818200-75821600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:75818200-75824000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:75818200-75828400	Weak transcription	Gastric	stomach
21	chr5:75818400-75822200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:75818400-75830800	Weak transcription	Pancreas	Pancrea
23	chr5:75818600-75821200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:75818600-75821600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:75819200-75821000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:75819200-75821000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:75819200-75822200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:75819200-75822200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:75819200-75823400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:75819200-75824200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:75819400-75821000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:75819400-75828200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:75819800-75821200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:75819800-75821200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:75819800-75821600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:75820000-75821000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:75820000-75821000	Enhancers	NHEK	skin
38	chr5:75820000-75821200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:75820000-75821200	Enhancers	NH-A	brain
40	chr5:75820000-75821400	Enhancers	Brain Germinal Matrix	brain
41	chr5:75820000-75821600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:75820000-75826200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:75820200-75821000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:75820200-75821000	Enhancers	Fetal Stomach	stomach
45	chr5:75820200-75821200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:75820200-75821200	Enhancers	Fetal Brain Male	brain
47	chr5:75820200-75821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:75820200-75823000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:75820200-75827600	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:75820200-75832600	Weak transcription	Fetal Intestine Small	intestine

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