Variant report

Variant	rs61909657
Chromosome Location	chr12:4722171-4722172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4716709..4719641-chr12:4721067..4722851,2	K562	blood:
2	chr12:4715702..4719110-chr12:4719525..4722538,3	K562	blood:

Variant related genes	Relation type
ENSG00000010219	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11608546	0.91[EUR][1000 genomes]
rs11608895	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11610298	0.84[EUR][1000 genomes]
rs11614297	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11614450	0.84[EUR][1000 genomes]
rs11615364	0.83[EUR][1000 genomes]
rs11615397	0.91[EUR][1000 genomes]
rs12318978	0.92[EUR][1000 genomes]
rs12580262	0.84[EUR][1000 genomes]
rs34047542	0.80[EUR][1000 genomes]
rs34392018	0.96[EUR][1000 genomes]
rs35827006	0.92[EUR][1000 genomes]
rs55929927	0.92[EUR][1000 genomes]
rs58057028	0.92[EUR][1000 genomes]
rs58588078	0.92[EUR][1000 genomes]
rs58934582	0.92[EUR][1000 genomes]
rs60139771	0.92[EUR][1000 genomes]
rs61909641	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61909644	0.92[EUR][1000 genomes]
rs61909645	0.92[EUR][1000 genomes]
rs61909646	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61909647	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61909651	0.92[EUR][1000 genomes]
rs61909652	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61909653	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61909658	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61909659	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61909960	0.91[EUR][1000 genomes]
rs61909961	0.91[EUR][1000 genomes]
rs61909962	0.84[EUR][1000 genomes]
rs61909963	0.91[EUR][1000 genomes]
rs61909964	0.83[EUR][1000 genomes]
rs61911360	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61911366	0.91[EUR][1000 genomes]
rs61911367	0.91[EUR][1000 genomes]
rs61911368	0.91[EUR][1000 genomes]
rs61911369	0.91[EUR][1000 genomes]
rs61911370	0.91[EUR][1000 genomes]
rs7137549	0.84[EUR][1000 genomes]
rs74060058	0.92[EUR][1000 genomes]
rs7971891	0.91[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4714400-4722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:4714400-4724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:4714600-4722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
8	chr12:4714800-4722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:4714800-4722400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:4714800-4724400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:4714800-4725800	Weak transcription	Fetal Brain Male	brain
12	chr12:4714800-4726600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:4715000-4722200	Weak transcription	A549	lung
14	chr12:4715000-4722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:4715200-4722200	Weak transcription	Fetal Kidney	kidney
16	chr12:4715200-4722400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:4715200-4722600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:4715200-4722600	Weak transcription	Esophagus	oesophagus
19	chr12:4715200-4724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:4715200-4725000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:4715200-4725400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:4715200-4726400	Weak transcription	Fetal Heart	heart
23	chr12:4715800-4722400	Weak transcription	Fetal Brain Female	brain
24	chr12:4715800-4722600	Weak transcription	Small Intestine	intestine
25	chr12:4716000-4722200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:4716000-4722400	Weak transcription	NHLF	lung
27	chr12:4716000-4725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:4716000-4726400	Weak transcription	HUVEC	blood vessel
29	chr12:4716000-4726400	Weak transcription	NHDF-Ad	bronchial
30	chr12:4716200-4722200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:4716200-4722800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:4716200-4725400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:4716400-4724400	Weak transcription	Stomach Mucosa	stomach
34	chr12:4716400-4725400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:4716400-4726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:4716400-4727200	Weak transcription	HepG2	liver
37	chr12:4716600-4722600	Weak transcription	Gastric	stomach
38	chr12:4716600-4724600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:4716800-4725400	Strong transcription	Primary T cells from cord blood	blood
40	chr12:4717000-4725800	Strong transcription	Primary B cells from cord blood	blood
41	chr12:4717600-4725400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:4718400-4725200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:4718600-4723800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:4718600-4724000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:4718800-4724000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:4718800-4725400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:4718800-4725400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:4718800-4725600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:4719000-4724800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr12:4719000-4725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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