Variant report

Variant	rs12082128
Chromosome Location	chr1:94132458-94132459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94105482..94107011-chr1:94132272..94133832,2	MCF-7	breast:
2	chr1:94130556..94132470-chr1:94139912..94142800,2	K562	blood:
3	chr1:94127629..94130462-chr1:94131562..94133836,2	MCF-7	breast:
4	chr1:94130370..94133890-chr1:94136641..94140326,4	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11164952	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164960	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72961375	1.00[AMR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
2	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:94123200-94135800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:94126200-94134600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:94127000-94133600	Enhancers	Ovary	ovary
6	chr1:94127200-94134000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:94127400-94132800	Enhancers	Brain Anterior Caudate	brain
8	chr1:94127400-94133600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:94127400-94143800	Genic enhancers	HMEC	breast
10	chr1:94127400-94144000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:94127800-94134000	Enhancers	Colon Smooth Muscle	Colon
12	chr1:94128400-94134200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:94128800-94134000	Enhancers	Right Atrium	heart
14	chr1:94128800-94137800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:94129000-94137000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:94129200-94144800	Weak transcription	GM12878-XiMat	blood
17	chr1:94129400-94137600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:94129600-94133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:94129800-94135000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:94130200-94132600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:94130200-94132800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:94130200-94133400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:94130400-94134000	Enhancers	Esophagus	oesophagus
24	chr1:94130600-94134400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:94130800-94132600	Weak transcription	Liver	Liver
26	chr1:94130800-94132600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:94130800-94133000	Weak transcription	Stomach Mucosa	stomach
28	chr1:94130800-94134600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:94130800-94134800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:94130800-94141000	Genic enhancers	HSMM	muscle
31	chr1:94131000-94134600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:94131000-94138000	Weak transcription	Fetal Brain Male	brain
33	chr1:94131200-94133200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:94131200-94133400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:94131200-94134600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:94131200-94134600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:94131200-94134600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:94131200-94134800	Genic enhancers	HUVEC	blood vessel
39	chr1:94131200-94136200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:94131200-94136200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:94131200-94144000	Genic enhancers	Placenta	Placenta
42	chr1:94131400-94132800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr1:94131400-94134200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:94131400-94135800	Weak transcription	Aorta	Aorta
45	chr1:94131400-94136400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:94131400-94137000	Genic enhancers	A549	lung
47	chr1:94131400-94140600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:94131600-94133200	Genic enhancers	Psoas Muscle	Psoas
49	chr1:94131600-94134600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:94131600-94136200	Weak transcription	Fetal Lung	lung

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