Variant report

Variant	rs2192712
Chromosome Location	chr2:40007796-40007797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:40007780-40008788	K562	blood:	n/a	n/a
2	MAX	chr2:40007662-40008752	NB4	blood:	n/a	n/a
3	TEAD4	chr2:40007722-40008790	K562	blood:	n/a	n/a
4	TBP	chr2:40007772-40008715	K562	blood:	n/a	n/a
5	CCNT2	chr2:40007710-40008576	K562	blood:	n/a	n/a
6	CBX3	chr2:40007750-40008704	K562	blood:	n/a	n/a

Variant related genes	Relation type
THUMPD2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10198734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs13035505	1.00[JPT][hapmap]
rs13388310	1.00[CHB][hapmap]
rs13395966	1.00[EUR][1000 genomes]
rs1476988	1.00[JPT][hapmap]
rs17024154	0.96[EUR][1000 genomes]
rs17024276	0.96[EUR][1000 genomes]
rs17024299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17024307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17024325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2058621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2110672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2110673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2160207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2540234	0.84[EUR][1000 genomes]
rs2716706	1.00[EUR][1000 genomes]
rs2716724	0.96[EUR][1000 genomes]
rs2716726	0.96[EUR][1000 genomes]
rs2716734	1.00[EUR][1000 genomes]
rs57704430	1.00[EUR][1000 genomes]
rs60003713	1.00[EUR][1000 genomes]
rs6708232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6716262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6745129	1.00[EUR][1000 genomes]
rs6752871	1.00[JPT][hapmap]
rs73924917	1.00[EUR][1000 genomes]
rs73924918	1.00[EUR][1000 genomes]
rs73924919	1.00[EUR][1000 genomes]
rs73924920	1.00[EUR][1000 genomes]
rs73924934	1.00[EUR][1000 genomes]
rs7576551	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7589583	1.00[JPT][hapmap]
rs7604790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873890	chr2:39976810-40009041	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv2696	chr2:39988381-40033288	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40004200-40008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:40005600-40008600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr2:40006000-40008400	Weak transcription	Fetal Heart	heart
4	chr2:40006400-40007800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:40006400-40007800	Weak transcription	Spleen	Spleen
6	chr2:40006600-40008200	Weak transcription	HSMMtube	muscle
7	chr2:40006600-40008600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:40006600-40008800	Flanking Active TSS	K562	blood
9	chr2:40006600-40010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:40006800-40007800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:40006800-40007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:40006800-40008000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:40006800-40008000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:40006800-40008000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:40006800-40008000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:40006800-40008000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:40006800-40008000	Enhancers	HSMM	muscle
18	chr2:40006800-40008400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:40006800-40008600	Enhancers	Primary T cells from cord blood	blood
20	chr2:40006800-40008800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:40006800-40008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:40006800-40010200	Weak transcription	Esophagus	oesophagus
23	chr2:40006800-40014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:40007000-40007800	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:40007000-40007800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:40007000-40007800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:40007000-40007800	Weak transcription	NHLF	lung
28	chr2:40007000-40008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:40007000-40008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:40007000-40008000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:40007000-40008000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:40007000-40008000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:40007000-40008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:40007000-40008000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:40007000-40008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:40007000-40008000	Weak transcription	Colonic Mucosa	Colon
37	chr2:40007000-40008000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:40007000-40008000	Enhancers	Fetal Thymus	thymus
39	chr2:40007000-40008000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:40007000-40008000	Weak transcription	Right Atrium	heart
41	chr2:40007000-40008000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:40007000-40008000	Weak transcription	Thymus	Thymus
43	chr2:40007000-40008000	Flanking Active TSS	HepG2	liver
44	chr2:40007000-40008000	Weak transcription	HMEC	breast
45	chr2:40007000-40008200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:40007000-40008200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:40007000-40008200	Weak transcription	Liver	Liver
48	chr2:40007000-40008200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:40007000-40008200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:40007000-40008200	Weak transcription	Psoas Muscle	Psoas

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