Variant report

Variant	rs61016093
Chromosome Location	chr12:25403523-25403524
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25400232..25401983-chr12:25402090..25403679,2	MCF-7	breast:
2	chr12:25346725..25349884-chr12:25402144..25405058,5	K562	blood:
3	chr12:25403381..25404341-chr2:113521480..113522326,2	Hela-S3	cervix:
4	chr12:25403484..25404087-chr12:112846862..112847504,2	Hela-S3	cervix:
5	chr12:25346543..25348618-chr12:25402303..25405258,3	K562	blood:
6	chr12:25403374..25403874-chr16:47495157..47495674,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000102893	Chromatin interaction
ENSG00000118307	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000205707	Chromatin interaction
ENSG00000089009	Chromatin interaction
ENSG00000129636	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10842508	0.82[ASN][1000 genomes]
rs10842509	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11047880	0.90[AMR][1000 genomes]
rs11047911	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11047918	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228277	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230737	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230955	0.90[AMR][1000 genomes]
rs12423011	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12423489	0.90[AMR][1000 genomes]
rs12427141	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17329424	0.93[EUR][1000 genomes]
rs2970532	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4356326	0.81[AMR][1000 genomes]
rs4623993	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61761101	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763584	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73073207	0.88[AMR][1000 genomes]
rs7309862	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312175	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7973746	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv898927	chr12:25389220-25408047	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3324549	chr12:25402710-25405458	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25401800-25404400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:25402000-25404800	Active TSS	GM12878-XiMat	blood
3	chr12:25402200-25404600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:25402400-25405200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:25402600-25404400	Active TSS	Fetal Stomach	stomach
6	chr12:25402600-25404600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:25402600-25404600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:25402600-25404600	Active TSS	Aorta	Aorta
9	chr12:25402600-25404600	Active TSS	Colon Smooth Muscle	Colon
10	chr12:25402600-25404600	Active TSS	Fetal Kidney	kidney
11	chr12:25402600-25404600	Active TSS	NHLF	lung
12	chr12:25402600-25404800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:25402600-25404800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:25402600-25404800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:25402600-25404800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:25402600-25404800	Active TSS	HMEC	breast
17	chr12:25402600-25404800	Active TSS	NHDF-Ad	bronchial
18	chr12:25402600-25405000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:25402600-25405000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:25402800-25404400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:25402800-25404400	Active TSS	Gastric	stomach
22	chr12:25402800-25404400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr12:25402800-25404600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:25402800-25404600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr12:25402800-25404600	Active TSS	A549	lung
26	chr12:25402800-25404800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:25402800-25404800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:25402800-25404800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:25402800-25404800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:25402800-25404800	Active TSS	Fetal Muscle Trunk	muscle
31	chr12:25402800-25404800	Active TSS	Ovary	ovary
32	chr12:25402800-25405000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:25403000-25403600	Active TSS	Right Atrium	heart
34	chr12:25403000-25404200	Active TSS	Primary B cells from cord blood	blood
35	chr12:25403000-25404200	Active TSS	HepG2	liver
36	chr12:25403000-25404400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:25403000-25404400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:25403000-25404400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:25403000-25404400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:25403000-25404400	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:25403000-25404400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:25403000-25404400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:25403000-25404400	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:25403000-25404400	Active TSS	Fetal Intestine Large	intestine
45	chr12:25403000-25404400	Active TSS	Fetal Intestine Small	intestine
46	chr12:25403000-25404400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:25403000-25404600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:25403000-25404600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:25403000-25404600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:25403000-25404600	Active TSS	Muscle Satellite Cultured Cells	--

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