Variant report

Variant	rs12029082
Chromosome Location	chr1:151537896-151537897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr1:151537818-151538258	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:151537884-151538079	Hela-S3	cervix:	n/a	n/a
3	FOXA1	chr1:151537800-151538301	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151535660..151537996-chr1:151558543..151560169,2	MCF-7	breast:
2	chr1:151530516..151532750-chr1:151536310..151538102,2	K562	blood:
3	chr1:151528421..151530199-chr1:151537173..151538889,2	K562	blood:
4	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
5	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:

No data

Variant related genes	Relation type
TUFT1	TF binding region
ENSG00000143367	Chromatin interaction
ENSG00000223861	Chromatin interaction
ENSG00000232536	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11549248	0.85[EUR][1000 genomes]
rs12037928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12044926	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1418823	0.81[EUR][1000 genomes]
rs60322305	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6694047	0.85[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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151520600-151542000	Weak transcription	Right Ventricle	heart
4	chr1:151520600-151545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151521600-151538600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:151521800-151541800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:151521800-151559000	Weak transcription	Small Intestine	intestine
8	chr1:151522400-151540800	Weak transcription	Stomach Mucosa	stomach
9	chr1:151526800-151538600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:151530200-151540800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:151531800-151538000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:151531800-151542200	Strong transcription	HSMM	muscle
13	chr1:151532000-151542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:151532200-151546400	Weak transcription	Spleen	Spleen
15	chr1:151532600-151551200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:151533000-151540000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:151533000-151557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:151533600-151538600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:151533600-151541600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:151533800-151541400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:151533800-151561600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:151534000-151539600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:151534200-151542000	Strong transcription	Fetal Intestine Large	intestine
24	chr1:151534200-151542200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:151534200-151542400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:151534200-151549400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:151534200-151550200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:151534400-151539000	Strong transcription	Brain Germinal Matrix	brain
29	chr1:151534400-151539600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:151534400-151540800	Strong transcription	Fetal Intestine Small	intestine
31	chr1:151534800-151538800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:151535000-151547000	Strong transcription	HSMMtube	muscle
33	chr1:151535200-151541800	Weak transcription	NHDF-Ad	bronchial
34	chr1:151535600-151540000	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:151535600-151547000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:151535800-151538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:151535800-151538400	Genic enhancers	A549	lung
38	chr1:151535800-151539600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:151535800-151540400	Genic enhancers	NHEK	skin
40	chr1:151535800-151561800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:151536000-151539600	Strong transcription	Hela-S3	cervix
42	chr1:151536000-151544600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:151536000-151546800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:151536000-151547000	Strong transcription	Placenta	Placenta
45	chr1:151536200-151539800	Strong transcription	Pancreas	Pancrea
46	chr1:151536400-151539000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr1:151536400-151539600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:151536400-151540800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:151536400-151546000	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr1:151536600-151538200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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