Variant report

Variant	rs12239084
Chromosome Location	chr1:165822740-165822741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165822136..165824706-chr1:165825180..165827276,2	K562	blood:
2	chr1:165804707..165808619-chr1:165822123..165824856,3	K562	blood:
3	chr1:165822075..165824045-chr1:165844384..165846604,2	K562	blood:
4	chr1:165804707..165809840-chr1:165822123..165825220,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12041574	1.00[CEU][hapmap]
rs12745373	1.00[CEU][hapmap]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr1:165812200-165823200	Weak transcription	Aorta	Aorta
2	chr1:165812200-165823200	Weak transcription	Fetal Stomach	stomach
3	chr1:165812200-165823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:165812400-165823200	Weak transcription	Left Ventricle	heart
5	chr1:165812400-165823200	Weak transcription	Right Ventricle	heart
6	chr1:165812400-165823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:165813000-165823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:165814000-165823200	Weak transcription	Small Intestine	intestine
9	chr1:165816200-165825000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:165817600-165823800	Enhancers	Fetal Thymus	thymus
11	chr1:165818000-165829200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:165818400-165823800	Enhancers	Thymus	Thymus
13	chr1:165818600-165823200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:165818600-165828000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:165818800-165823400	Weak transcription	Right Atrium	heart
16	chr1:165818800-165824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:165818800-165826600	Weak transcription	Esophagus	oesophagus
18	chr1:165819000-165823200	Weak transcription	Adipose Nuclei	Adipose
19	chr1:165819000-165826000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:165819000-165826200	Weak transcription	Stomach Mucosa	stomach
21	chr1:165819200-165823000	Weak transcription	Hela-S3	cervix
22	chr1:165819200-165824600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:165819200-165824800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:165819600-165824400	Enhancers	HMEC	breast
25	chr1:165820200-165825800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:165820400-165825200	Enhancers	Fetal Heart	heart
27	chr1:165820400-165827600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:165820600-165823200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:165820600-165823200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:165820600-165823200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:165820800-165823000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:165820800-165823200	Weak transcription	Placenta	Placenta
33	chr1:165820800-165823200	Weak transcription	Gastric	stomach
34	chr1:165820800-165823200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:165820800-165824800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:165820800-165828000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:165821000-165822800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:165821000-165822800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:165821000-165823200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:165821000-165823200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:165821000-165823200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:165821000-165823200	Weak transcription	Fetal Intestine Large	intestine
43	chr1:165821000-165823400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:165821000-165825800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:165821000-165832200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:165821200-165823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:165821200-165823200	Weak transcription	Pancreas	Pancrea
48	chr1:165821200-165823400	Weak transcription	Spleen	Spleen
49	chr1:165821400-165827200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:165821600-165822800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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