Variant report

Variant	rs997716
Chromosome Location	chr2:181972354-181972355
allele	C/T
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	NFIC	chr2:181971240-181972391	GM12878	blood:	n/a	n/a
2	CHD1	chr2:181971508-181972403	GM12878	blood:	n/a	n/a
3	RAD21	chr2:181969046-181972558	SK-N-SH	brain:	n/a	chr2:181969425-181969444 chr2:181969426-181969435 chr2:181971061-181971080

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181839506..181842433-chr2:181971642..181974430,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E3-4	chr2:181971351-181972525	ucscGeneNc_uc002uns_1

Variant related genes	Relation type
ENSG00000238171	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2292856	0.82[YRI][hapmap]
rs4572560	0.82[YRI][hapmap]
rs56977169	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59260686	0.91[ASN][1000 genomes]
rs62180166	0.96[ASN][1000 genomes]
rs73025698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027403	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027409	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027412	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027417	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027429	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73027433	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027437	1.00[ASN][1000 genomes]
rs73027439	1.00[ASN][1000 genomes]
rs73027441	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027445	1.00[ASN][1000 genomes]
rs73027455	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027457	1.00[ASN][1000 genomes]
rs73027466	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027468	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027474	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027482	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027499	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73027502	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73029106	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73029172	0.96[ASN][1000 genomes]
rs73029178	0.96[ASN][1000 genomes]
rs73029179	0.96[ASN][1000 genomes]
rs73029181	0.96[ASN][1000 genomes]
rs73029183	0.96[ASN][1000 genomes]
rs73029186	0.96[ASN][1000 genomes]
rs73029188	0.96[ASN][1000 genomes]
rs73976816	0.96[ASN][1000 genomes]
rs873255	0.89[YRI][hapmap]
rs908735	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181969000-181972400	Enhancers	Dnd41	blood
2	chr2:181969000-181974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:181969200-181972400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:181969200-181972600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:181969200-181973200	Enhancers	Primary T cells from cord blood	blood
6	chr2:181969200-181973200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:181969200-181973600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:181969200-181974200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:181969400-181972400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:181969400-181972600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:181969400-181972600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:181969400-181972600	Enhancers	HSMMtube	muscle
13	chr2:181969400-181972800	Enhancers	Fetal Brain Male	brain
14	chr2:181969400-181973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:181969400-181974000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:181969400-181974200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:181969600-181972400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:181969600-181972400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:181969600-181972400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:181969600-181972400	Enhancers	Osteobl	bone
21	chr2:181969600-181973200	Enhancers	NHDF-Ad	bronchial
22	chr2:181969800-181972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:181969800-181972400	Enhancers	HSMM	muscle
24	chr2:181970200-181972400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:181970200-181972400	Enhancers	Hela-S3	cervix
26	chr2:181970200-181972400	Enhancers	HMEC	breast
27	chr2:181970200-181972400	Enhancers	NHEK	skin
28	chr2:181970200-181973200	Enhancers	NHLF	lung
29	chr2:181970400-181972400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:181970800-181972400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:181970800-181972400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:181970800-181974000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:181971000-181972400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:181971000-181972400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:181971000-181972400	Enhancers	NH-A	brain
36	chr2:181971000-181972600	Enhancers	HUVEC	blood vessel
37	chr2:181971400-181972600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:181971800-181972400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:181971800-181972400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:181971800-181972600	Flanking Active TSS	GM12878-XiMat	blood
41	chr2:181972000-181972400	Flanking Active TSS	A549	lung
42	chr2:181972200-181972400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr2:181972200-181972600	Enhancers	Muscle Satellite Cultured Cells	--

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