Variant report

Variant	rs6453229
Chromosome Location	chr5:75818117-75818118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75813206..75815347-chr5:75817807..75820110,2	K562	blood:
2	chr5:75804818..75806552-chr5:75817322..75819919,2	MCF-7	breast:
3	chr5:75816896..75819004-chr5:75820235..75822172,2	K562	blood:

Variant related genes	Relation type
ENSG00000250574	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4544808	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4703711	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704320	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704321	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6453230	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711193	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9293686	0.86[AMR][1000 genomes];0.95[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75786400-75819800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:75800400-75819200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:75801800-75820000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:75806800-75834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:75806800-75839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:75808000-75820400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:75810600-75828400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:75812400-75819200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:75814400-75820200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:75814600-75819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:75815000-75829000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:75815200-75822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:75815200-75828000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:75816200-75821000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:75816400-75818200	Enhancers	HepG2	liver
16	chr5:75816400-75820600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:75816400-75826800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:75816600-75818600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:75816800-75819000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:75816800-75820600	Enhancers	Liver	Liver
21	chr5:75816800-75821200	Enhancers	Stomach Mucosa	stomach
22	chr5:75817000-75819400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:75817200-75820000	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:75817200-75820200	Enhancers	Fetal Intestine Small	intestine
25	chr5:75817200-75820400	Weak transcription	Primary B cells from cord blood	blood
26	chr5:75817200-75822800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:75817400-75818200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr5:75817400-75818400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:75817400-75818400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:75817400-75818400	Enhancers	Pancreas	Pancrea
31	chr5:75817400-75819200	Enhancers	Fetal Intestine Large	intestine
32	chr5:75817600-75818400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:75817600-75818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:75817600-75818400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:75817600-75818600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:75817600-75819200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:75817600-75820000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:75817600-75820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:75817600-75821000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:75817600-75821400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:75817600-75822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:75817600-75822400	Weak transcription	Placenta	Placenta
43	chr5:75817600-75823000	Weak transcription	K562	blood
44	chr5:75817800-75818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:75817800-75818600	Enhancers	GM12878-XiMat	blood
46	chr5:75817800-75819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:75817800-75819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:75817800-75820000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:75817800-75820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:75817800-75820000	Weak transcription	NHEK	skin

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