Variant report

Variant	rs1834748
Chromosome Location	chr2:231190247-231190248
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	POLR2A	chr2:231190069-231192265	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:231190200-231190267	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:231190050-231190250	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:
2	chr2:231187450..231190323-chr2:231192038..231194221,2	K562	blood:

Variant related genes	Relation type
SP140L	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10165012	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170241	1.00[ASN][1000 genomes]
rs2396745	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396746	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707444	1.00[ASN][1000 genomes]
rs6710287	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking 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	18 gene(s)	inside rSNPs	diseases
3	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv584667	chr2:231177822-231258450	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv460119	chr2:231178876-231258450	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv584668	chr2:231178876-231258450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1001929	chr2:231179884-231258603	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1006206	chr2:231179884-231268938	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv584669	chr2:231183321-231258150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv584670	chr2:231183786-231241276	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3374323	chr2:231186424-231244177	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231184200-231191200	Weak transcription	HMEC	breast
2	chr2:231184800-231191200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:231184800-231191400	Weak transcription	Right Atrium	heart
4	chr2:231187000-231191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:231187000-231191400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231187200-231190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:231187400-231190400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:231187800-231191400	Weak transcription	Thymus	Thymus
9	chr2:231188200-231191200	Weak transcription	Osteobl	bone
10	chr2:231188400-231191000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:231188400-231191400	Weak transcription	A549	lung
12	chr2:231188600-231191200	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:231188600-231191400	Weak transcription	K562	blood
14	chr2:231188800-231190400	Weak transcription	Placenta	Placenta
15	chr2:231189200-231191000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:231189400-231191200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:231189400-231191400	Weak transcription	Pancreas	Pancrea
18	chr2:231189400-231191400	Enhancers	Spleen	Spleen
19	chr2:231189600-231191200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:231189600-231191200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:231189600-231191200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:231189800-231191200	Enhancers	Primary T cells from cord blood	blood
23	chr2:231189800-231191200	Enhancers	Hela-S3	cervix
24	chr2:231189800-231191200	Enhancers	HepG2	liver
25	chr2:231189800-231191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:231190000-231190400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:231190000-231190400	Enhancers	Esophagus	oesophagus
28	chr2:231190000-231190400	Enhancers	Left Ventricle	heart
29	chr2:231190000-231191200	Enhancers	Primary B cells from cord blood	blood
30	chr2:231190000-231191200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:231190000-231191200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:231190000-231191200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:231190000-231191200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:231190000-231191800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:231190000-231194000	Flanking Active TSS	Dnd41	blood
36	chr2:231190200-231190400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:231190200-231190400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:231190200-231190800	Enhancers	Lung	lung
39	chr2:231190200-231191200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:231190200-231191200	Enhancers	Liver	Liver
41	chr2:231190200-231191200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:231190200-231191400	Weak transcription	Right Ventricle	heart
43	chr2:231190200-231191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:231190200-231191400	Enhancers	Stomach Mucosa	stomach

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