Variant report

Variant	rs2633567
Chromosome Location	chr3:112190840-112190841
allele	A/C
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	POLR2A	chr3:112190809-112191254	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BTLA	TF binding region

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1386897	1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1872987	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1996724	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2029318	1.00[ASN][1000 genomes]
rs2087259	1.00[ASN][1000 genomes]
rs2129856	1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	1.00[ASN][1000 genomes]
rs2633541	1.00[ASN][1000 genomes]
rs2633554	1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633591	1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633601	1.00[ASN][1000 genomes]
rs2633606	1.00[ASN][1000 genomes]
rs2633607	1.00[ASN][1000 genomes]
rs2633608	1.00[ASN][1000 genomes]
rs2683890	1.00[ASN][1000 genomes]
rs2683896	1.00[ASN][1000 genomes]
rs2683897	1.00[ASN][1000 genomes]
rs2683898	1.00[ASN][1000 genomes]
rs2683901	1.00[ASN][1000 genomes]
rs2683902	1.00[ASN][1000 genomes]
rs2683904	1.00[ASN][1000 genomes]
rs2931761	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2971206	1.00[ASN][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72952469	1.00[ASN][1000 genomes]

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	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112180400-112195400	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr3:112182200-112193600	Weak transcription	Spleen	Spleen
3	chr3:112183800-112195000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:112184200-112191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:112185400-112192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:112186000-112194400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:112186400-112192000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:112186400-112194400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:112186400-112195000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:112186400-112195200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:112186400-112195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:112186800-112191800	Genic enhancers	Primary B cells from cord blood	blood
13	chr3:112188000-112192000	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:112188600-112191000	Enhancers	Osteobl	bone
15	chr3:112188600-112192200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:112188600-112192400	Enhancers	HSMM	muscle
17	chr3:112188800-112191000	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr3:112188800-112191200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:112188800-112191200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:112188800-112197600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:112189000-112192000	Genic enhancers	GM12878-XiMat	blood
22	chr3:112189200-112193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:112189400-112191200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:112189600-112192600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:112189800-112191000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:112189800-112193000	Enhancers	Fetal Thymus	thymus
27	chr3:112190000-112192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:112190400-112191000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:112190400-112191000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:112190400-112191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:112190400-112191600	Weak transcription	HSMMtube	muscle
32	chr3:112190600-112191000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:112190600-112192000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr3:112190600-112192200	Enhancers	Primary T cells from cord blood	blood
35	chr3:112190600-112192200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:112190600-112193000	Enhancers	Fetal Muscle Leg	muscle
37	chr3:112190600-112193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:112190600-112194400	Enhancers	Thymus	Thymus
39	chr3:112190600-112198400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:112190800-112191000	Enhancers	Adipose Nuclei	Adipose
41	chr3:112190800-112191000	Enhancers	Fetal Lung	lung
42	chr3:112190800-112191000	Enhancers	Right Atrium	heart
43	chr3:112190800-112192000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:112190800-112192200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:112190800-112193000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:112190800-112195400	Enhancers	Primary T helper cells fromperipheralblood	blood

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