Variant report

Variant	rs4143008
Chromosome Location	chr2:145339954-145339955
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145338348..145347477-chr2:145350435..145356314,14	K562	blood:
2	chr2:145339142..145341706-chr2:145354929..145356495,2	MCF-7	breast:
3	chr2:145258786..145260794-chr2:145337929..145340893,3	K562	blood:
4	chr2:145250390..145252682-chr2:145338354..145340585,2	K562	blood:
5	chr2:145338442..145340591-chr2:145652490..145655242,2	K562	blood:
6	chr2:145338489..145340656-chr2:145645352..145647158,2	K562	blood:
7	chr2:145264650..145290093-chr2:145328018..145347614,89	K562	blood:
8	chr2:145245907..145248266-chr2:145339195..145340715,2	K562	blood:
9	chr2:145284448..145287063-chr2:145337882..145340478,2	K562	blood:
10	chr2:145260780..145283431-chr2:145335698..145347428,65	K562	blood:
11	chr2:145322939..145324730-chr2:145339196..145341891,3	K562	blood:
12	chr2:145257687..145260314-chr2:145338650..145340893,3	K562	blood:
13	chr2:145325314..145328717-chr2:145336202..145340308,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction
ENSG00000232606	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10803510	0.90[CHB][hapmap]
rs1346344	0.90[CHB][hapmap]
rs1427500	0.90[CHB][hapmap]
rs1427506	0.90[CHB][hapmap]
rs1427507	0.90[CHB][hapmap]
rs16823865	0.84[CEU][hapmap]
rs16823886	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs2162571	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145337400-145341800	Enhancers	Fetal Thymus	thymus
2	chr2:145337800-145340000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:145337800-145340000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:145337800-145340400	Flanking Active TSS	K562	blood
5	chr2:145337800-145341000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:145338000-145340000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:145338000-145340600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:145338000-145340600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:145338000-145340800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:145338000-145341000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:145338000-145341200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:145338000-145341400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:145338000-145341800	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:145338000-145342200	Enhancers	HUVEC	blood vessel
15	chr2:145338200-145340800	Enhancers	Brain Germinal Matrix	brain
16	chr2:145338200-145341000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:145338200-145341000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:145338200-145341200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:145338200-145341800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:145338200-145342000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:145338400-145340200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:145338600-145340600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:145338600-145340600	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:145338600-145340800	Enhancers	Fetal Muscle Leg	muscle
25	chr2:145338600-145341600	Weak transcription	NHLF	lung
26	chr2:145338800-145340200	Weak transcription	Brain Anterior Caudate	brain
27	chr2:145338800-145342200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:145339000-145340000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:145339000-145340200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:145339000-145340200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:145339000-145340400	Weak transcription	Brain Substantia Nigra	brain
32	chr2:145339000-145340800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:145339000-145341000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:145339200-145340000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:145339200-145340000	Weak transcription	Primary T cells from cord blood	blood
36	chr2:145339200-145340400	Enhancers	Primary B cells from cord blood	blood
37	chr2:145339200-145340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:145339200-145340800	Enhancers	Fetal Heart	heart
39	chr2:145339200-145342000	Enhancers	Dnd41	blood
40	chr2:145339200-145342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:145339400-145340000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:145339400-145340000	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:145339400-145340000	Enhancers	Lung	lung
44	chr2:145339400-145340200	Weak transcription	Fetal Brain Male	brain
45	chr2:145339400-145340200	Weak transcription	Fetal Lung	lung
46	chr2:145339400-145340400	Enhancers	Fetal Intestine Small	intestine
47	chr2:145339400-145341000	Enhancers	Fetal Stomach	stomach
48	chr2:145339400-145341200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:145339400-145341200	Enhancers	Right Atrium	heart
50	chr2:145339600-145340000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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