Variant report

Variant	rs13005986
Chromosome Location	chr2:10000180-10000181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9998951..10002635-chr2:10014006..10016302,3	K562	blood:
2	chr2:9999348..10001334-chr2:10185106..10187713,2	K562	blood:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10194295	0.83[ASN][1000 genomes]
rs34878262	0.83[ASN][1000 genomes]
rs35879921	0.80[ASN][1000 genomes]
rs6725464	0.83[ASN][1000 genomes]
rs71437682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs891502	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription 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	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9985000-10000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:9987400-10003200	Weak transcription	Stomach Mucosa	stomach
4	chr2:9989400-10000600	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr2:9989400-10001000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr2:9989600-10001200	Strong transcription	Osteobl	bone
7	chr2:9990400-10000600	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr2:9990400-10000800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:9990600-10000800	Strong transcription	Stomach Smooth Muscle	stomach
10	chr2:9990600-10001600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:9993000-10003600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:9993200-10001200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:9993600-10007400	Weak transcription	Psoas Muscle	Psoas
14	chr2:9993800-10002600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr2:9993800-10002800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:9993800-10079600	Weak transcription	Gastric	stomach
17	chr2:9994600-10000600	Weak transcription	Right Ventricle	heart
18	chr2:9995400-10001200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr2:9995400-10002600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:9995400-10002800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:9995600-10002600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr2:9995800-10001200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr2:9995800-10001400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
25	chr2:9996000-10001200	ZNF genes & repeats	Fetal Brain Female	brain
26	chr2:9996000-10001200	ZNF genes & repeats	Dnd41	blood
27	chr2:9996000-10001600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:9996200-10001000	ZNF genes & repeats	A549	lung
29	chr2:9996400-10001600	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr2:9996400-10016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:9996600-10001400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:9996800-10001400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:9996800-10001400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:9997000-10001000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr2:9997000-10001600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr2:9997000-10002600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:9997200-10001000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:9997200-10001400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr2:9997200-10001400	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr2:9997200-10001400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr2:9997400-10001200	ZNF genes & repeats	Fetal Lung	lung
42	chr2:9997400-10001400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
43	chr2:9997400-10001400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr2:9997400-10001400	ZNF genes & repeats	Thymus	Thymus
45	chr2:9997400-10002000	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:9997600-10001400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr2:9997600-10001600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:9997600-10001600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:9997600-10001600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr2:9997800-10001000	ZNF genes & repeats	Placenta	Placenta

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