Variant report

Variant	rs13030983
Chromosome Location	chr2:9906471-9906472
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9892015..9895829-chr2:9904744..9907713,4	K562	blood:
2	chr2:9769465..9771983-chr2:9905092..9906674,2	MCF-7	breast:
3	chr2:9892015..9894940-chr2:9904744..9907619,3	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13007842	0.93[ASN][1000 genomes]
rs884881	0.90[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]

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	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	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
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	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
8	nsv518227	chr2:9893454-9909114	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9898600-9906800	Enhancers	Fetal Muscle Leg	muscle
2	chr2:9899400-9909200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:9900400-9909400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:9901200-9906800	Enhancers	Fetal Heart	heart
5	chr2:9901400-9909400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:9901400-9909400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:9901800-9910200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:9903000-9911800	Enhancers	Fetal Intestine Small	intestine
9	chr2:9903200-9912000	Enhancers	Fetal Intestine Large	intestine
10	chr2:9903600-9906800	Enhancers	A549	lung
11	chr2:9903600-9910400	Weak transcription	Psoas Muscle	Psoas
12	chr2:9903600-9910800	Weak transcription	Left Ventricle	heart
13	chr2:9904000-9908200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:9904200-9909400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:9904200-9909600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:9904200-9910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:9904400-9906800	Enhancers	Fetal Stomach	stomach
18	chr2:9904600-9906800	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:9904600-9907800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:9904600-9907800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:9904800-9906800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr2:9904800-9907000	Enhancers	Esophagus	oesophagus
23	chr2:9904800-9908000	Weak transcription	Pancreas	Pancrea
24	chr2:9904800-9908000	Weak transcription	Spleen	Spleen
25	chr2:9904800-9910400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:9904800-9910400	Weak transcription	Hela-S3	cervix
27	chr2:9905000-9909200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:9905000-9910000	Weak transcription	Fetal Kidney	kidney
29	chr2:9905000-9910200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:9905200-9913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:9905400-9907200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:9905600-9906800	Enhancers	Colonic Mucosa	Colon
33	chr2:9905600-9908000	Weak transcription	GM12878-XiMat	blood
34	chr2:9905600-9909800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:9905800-9906600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:9905800-9906800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:9905800-9906800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:9905800-9906800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr2:9905800-9907000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:9905800-9907200	Enhancers	NHEK	skin
41	chr2:9906000-9906600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:9906000-9906600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:9906000-9906600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:9906000-9906600	Enhancers	Fetal Lung	lung
45	chr2:9906000-9906800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:9906000-9906800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:9906000-9906800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:9906000-9906800	Enhancers	Lung	lung
49	chr2:9906000-9907000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:9906000-9907200	Enhancers	HUES64 Cell Line	embryonic stem cell

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