Variant report

Variant	rs12085514
Chromosome Location	chr1:225650382-225650383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225649550..225651644-chr1:225657315..225659303,2	MCF-7	breast:
2	chr1:225626720..225628379-chr1:225647904..225650755,2	K562	blood:
3	chr1:225648477..225651119-chr1:225966156..225969061,2	K562	blood:
4	chr1:225637801..225642696-chr1:225647950..225650939,4	K562	blood:
5	chr1:225646346..225648004-chr1:225649524..225651043,2	K562	blood:
6	chr1:225646305..225648757-chr1:225649524..225652760,3	K562	blood:
7	chr1:225615091..225616977-chr1:225649695..225651542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12076606	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225642400-225650800	Weak transcription	Right Atrium	heart
2	chr1:225642400-225653000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:225642400-225655200	Weak transcription	Small Intestine	intestine
4	chr1:225642600-225655000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:225642800-225652800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:225643000-225650400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:225643000-225651000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:225646400-225653600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:225647000-225651600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:225647000-225651600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:225647000-225653600	Enhancers	Esophagus	oesophagus
12	chr1:225647000-225654600	Enhancers	Fetal Thymus	thymus
13	chr1:225647000-225654800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:225647200-225651600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:225647400-225651200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr1:225647400-225654800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:225647600-225652000	Enhancers	Fetal Stomach	stomach
18	chr1:225647600-225653800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:225647800-225653400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:225648000-225651400	Enhancers	Fetal Brain Male	brain
21	chr1:225648000-225652600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:225648200-225651000	Weak transcription	Fetal Intestine Small	intestine
23	chr1:225648400-225653400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:225648600-225650800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:225648600-225651000	Weak transcription	Gastric	stomach
26	chr1:225648600-225651200	Enhancers	Fetal Brain Female	brain
27	chr1:225648600-225652800	Weak transcription	Fetal Kidney	kidney
28	chr1:225648800-225650600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:225648800-225650800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:225648800-225650800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:225648800-225650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:225648800-225650800	Enhancers	Fetal Heart	heart
33	chr1:225648800-225651000	Weak transcription	HMEC	breast
34	chr1:225648800-225651400	Enhancers	Ovary	ovary
35	chr1:225648800-225652000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr1:225648800-225652200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:225648800-225652600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:225648800-225652600	Weak transcription	Osteobl	bone
39	chr1:225648800-225654600	Weak transcription	HUVEC	blood vessel
40	chr1:225649000-225650400	Weak transcription	Lung	lung
41	chr1:225649000-225650400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:225649000-225650400	Weak transcription	Stomach Mucosa	stomach
43	chr1:225649000-225652600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:225649000-225653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:225649000-225654600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:225649200-225650400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:225649200-225650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:225649200-225650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:225649200-225650800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:225649200-225650800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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