Variant report

Variant	rs7965868
Chromosome Location	chr12:122726240-122726241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122723264..122726488-chr12:122731541..122735825,4	K562	blood:

Variant related genes	Relation type
ENSG00000139719	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10270	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846470	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11060802	0.83[EUR][1000 genomes]
rs11061609	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12424872	0.88[EUR][1000 genomes]
rs12578953	0.85[EUR][1000 genomes]
rs12580084	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12815512	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12828234	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12833379	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2277332	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34325222	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3782153	0.84[ASN][1000 genomes]
rs3782154	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4567503	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758650	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758670	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758671	0.87[EUR][1000 genomes]
rs55741463	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59734396	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6488876	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298397	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7957569	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962385	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7963144	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7963565	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964911	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7970027	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7972228	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs872451	0.87[EUR][1000 genomes]
rs907482	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907483	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9668064	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711400-122734200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:122711800-122734400	Weak transcription	Stomach Mucosa	stomach
3	chr12:122711800-122734800	Weak transcription	Fetal Brain Male	brain
4	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
6	chr12:122712000-122730000	Strong transcription	Fetal Intestine Large	intestine
7	chr12:122712200-122730800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122713600-122726800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:122713800-122726800	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:122713800-122727800	Strong transcription	Fetal Thymus	thymus
12	chr12:122713800-122729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:122713800-122730800	Strong transcription	Adipose Nuclei	Adipose
14	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:122713800-122731000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:122714000-122727000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:122714000-122727000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:122714000-122727200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:122714000-122729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:122714200-122729800	Strong transcription	Fetal Intestine Small	intestine
22	chr12:122714400-122726800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:122714400-122729000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:122714400-122729400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:122714400-122729400	Strong transcription	Fetal Stomach	stomach
26	chr12:122714400-122729600	Strong transcription	Thymus	Thymus
27	chr12:122714600-122729400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:122715000-122728400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:122715000-122730600	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:122715200-122727000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
33	chr12:122716200-122729400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
35	chr12:122717600-122727800	Weak transcription	GM12878-XiMat	blood
36	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:122719600-122726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:122719600-122735000	Weak transcription	NHLF	lung
39	chr12:122720400-122734800	Weak transcription	NHEK	skin
40	chr12:122720600-122726400	Weak transcription	Primary B cells from cord blood	blood
41	chr12:122720600-122726400	Weak transcription	HepG2	liver
42	chr12:122720600-122726600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:122720600-122727600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:122720600-122728600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:122720600-122732200	Weak transcription	HUVEC	blood vessel
46	chr12:122720600-122732600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122720600-122733000	Weak transcription	A549	lung
48	chr12:122720600-122734000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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