Variant report

Variant	rs12094790
Chromosome Location	chr1:114330910-114330911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114295717..114297423-chr1:114329273..114331553,2	MCF-7	breast:
2	chr1:114323264..114325037-chr1:114328187..114331167,2	MCF-7	breast:
3	chr1:114328514..114333064-chr1:114341407..114344891,4	MCF-7	breast:
4	chr1:114327966..114331682-chr1:114351317..114354646,4	K562	blood:
5	chr1:114320682..114322921-chr1:114329159..114331168,2	K562	blood:
6	chr1:114330207..114332074-chr20:52046883..52049552,2	MCF-7	breast:
7	chr1:114328870..114331856-chr1:114340640..114342248,2	K562	blood:
8	chr1:114317996..114324872-chr1:114329159..114335059,8	K562	blood:
9	chr1:114324961..114329121-chr1:114330799..114335017,4	K562	blood:
10	chr1:114322719..114325037-chr1:114328729..114331001,2	MCF-7	breast:
11	chr1:114329880..114331707-chr1:114332071..114335621,3	K562	blood:
12	chr1:114300369..114304459-chr1:114329626..114333036,4	MCF-7	breast:
13	chr1:114304517..114306177-chr1:114329142..114331012,2	K562	blood:
14	chr1:114330552..114332424-chr1:114422086..114424136,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10858011	1.00[YRI][hapmap]
rs10858018	0.85[YRI][hapmap]
rs11102691	1.00[YRI][hapmap]
rs1146182	1.00[YRI][hapmap]
rs1146187	1.00[YRI][hapmap]
rs12060836	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12069381	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071676	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086805	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095235	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1217377	0.85[YRI][hapmap]
rs1217380	0.85[YRI][hapmap]
rs1217388	0.85[YRI][hapmap]
rs1217389	0.85[YRI][hapmap]
rs1217395	0.85[YRI][hapmap]
rs1217396	0.85[YRI][hapmap]
rs1217410	0.85[YRI][hapmap]
rs1217412	0.85[YRI][hapmap]
rs1230640	1.00[YRI][hapmap]
rs1230645	1.00[YRI][hapmap]
rs1230647	1.00[YRI][hapmap]
rs1230649	1.00[YRI][hapmap]
rs1230658	1.00[YRI][hapmap]
rs1230659	1.00[YRI][hapmap]
rs12565589	1.00[YRI][hapmap]
rs2636013	1.00[YRI][hapmap]
rs9429730	0.85[YRI][hapmap]

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114311000-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:114311000-114336800	Weak transcription	Fetal Kidney	kidney
5	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
6	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114320000-114336200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:114320000-114340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:114320200-114337200	Weak transcription	Placenta	Placenta
11	chr1:114320400-114331600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:114320400-114337200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:114320600-114331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:114326600-114335000	Weak transcription	Fetal Stomach	stomach
15	chr1:114326600-114335200	Weak transcription	HMEC	breast
16	chr1:114326600-114337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:114326800-114335200	Weak transcription	HUVEC	blood vessel
18	chr1:114326800-114335800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:114326800-114335800	Weak transcription	NH-A	brain
20	chr1:114326800-114338600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:114326800-114340000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:114327000-114335000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:114327000-114335200	Weak transcription	NHDF-Ad	bronchial
24	chr1:114327000-114336000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:114327000-114337000	Weak transcription	Brain Germinal Matrix	brain
26	chr1:114327200-114331600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:114327200-114331600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:114327200-114331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:114327200-114332000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:114327200-114333200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:114327200-114334800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:114327200-114337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:114327400-114331200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:114327400-114331200	Weak transcription	Stomach Mucosa	stomach
35	chr1:114327400-114331400	Weak transcription	Pancreas	Pancrea
36	chr1:114327400-114331600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:114327400-114331600	Weak transcription	Fetal Intestine Small	intestine
38	chr1:114327400-114331600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:114327400-114331600	Weak transcription	Gastric	stomach
40	chr1:114327400-114331600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:114327400-114331600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:114327400-114331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:114327400-114331800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:114327400-114331800	Weak transcription	Left Ventricle	heart
45	chr1:114327400-114331800	Weak transcription	Lung	lung
46	chr1:114327400-114331800	Weak transcription	Ovary	ovary
47	chr1:114327400-114331800	Weak transcription	Right Atrium	heart
48	chr1:114327400-114331800	Weak transcription	Right Ventricle	heart
49	chr1:114327400-114332000	Weak transcription	HSMM	muscle
50	chr1:114327400-114332000	Weak transcription	NHEK	skin

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