Variant report

Variant	rs17482652
Chromosome Location	chr22:28378998-28378999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28361846..28364536-chr22:28378435..28381037,2	K562	blood:
2	chr22:28378900..28382846-chr22:28384194..28387433,3	K562	blood:
3	chr22:28373494..28375523-chr22:28377881..28379772,3	MCF-7	breast:
4	chr22:28371840..28377290-chr22:28378156..28383171,5	K562	blood:

Variant related genes	Relation type
ENSG00000100154	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483141	0.90[AMR][1000 genomes]
rs135637	0.80[AMR][1000 genomes]
rs135638	0.90[AMR][1000 genomes]
rs135641	0.80[AMR][1000 genomes]
rs135643	0.90[AMR][1000 genomes]
rs135644	0.80[AMR][1000 genomes]
rs135645	0.80[AMR][1000 genomes]
rs135647	0.90[AMR][1000 genomes]
rs135649	0.80[AMR][1000 genomes]
rs135655	0.80[AMR][1000 genomes]
rs135659	0.90[AMR][1000 genomes]
rs16985862	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16985870	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16985909	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16985925	0.80[AMR][1000 genomes]
rs16985933	0.80[AMR][1000 genomes]
rs16985951	0.80[AMR][1000 genomes]
rs17391737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481471	1.00[AMR][1000 genomes]
rs17483227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483998	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2038286	0.80[AMR][1000 genomes]
rs2345011	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881204	0.80[AMR][1000 genomes]
rs55868187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752697	0.90[AMR][1000 genomes]
rs7286237	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7290640	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8135697	0.91[AMR][1000 genomes];0.91[EUR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv522306	chr22:28378472-28402624	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
4	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
5	chr22:28358600-28379400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:28360000-28379400	Weak transcription	Colonic Mucosa	Colon
7	chr22:28360200-28382800	Weak transcription	HSMM	muscle
8	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:28368400-28383400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:28368800-28385800	Weak transcription	Brain Angular Gyrus	brain
11	chr22:28369000-28381200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:28369200-28398400	Weak transcription	Hela-S3	cervix
13	chr22:28369400-28394000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:28370400-28382400	Weak transcription	Stomach Mucosa	stomach
15	chr22:28370400-28387200	Weak transcription	Fetal Kidney	kidney
16	chr22:28371800-28386800	Weak transcription	NHDF-Ad	bronchial
17	chr22:28371800-28395000	Weak transcription	Small Intestine	intestine
18	chr22:28372000-28382600	Weak transcription	NH-A	brain
19	chr22:28372000-28382800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:28372000-28386400	Weak transcription	HUVEC	blood vessel
21	chr22:28372800-28380600	Weak transcription	Brain Substantia Nigra	brain
22	chr22:28372800-28382000	Weak transcription	K562	blood
23	chr22:28373600-28404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:28373800-28383000	Strong transcription	Dnd41	blood
25	chr22:28373800-28386400	Strong transcription	Fetal Muscle Leg	muscle
26	chr22:28373800-28398200	Strong transcription	Fetal Brain Female	brain
27	chr22:28373800-28404200	Strong transcription	Fetal Stomach	stomach
28	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
29	chr22:28374600-28386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:28376000-28379600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:28376200-28382600	Strong transcription	Brain Germinal Matrix	brain
32	chr22:28376400-28383800	Strong transcription	Ovary	ovary
33	chr22:28376600-28382600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:28376800-28383600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:28377000-28381800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:28377000-28383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:28377000-28383400	Strong transcription	Placenta	Placenta
38	chr22:28377200-28379600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:28377200-28383400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr22:28377200-28385800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:28377200-28386400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr22:28377200-28386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:28377200-28386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:28377200-28387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:28377200-28388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr22:28377600-28379800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:28377600-28382800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:28377600-28382800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:28377600-28383200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:28377800-28379000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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