Variant report

Variant	rs2644890
Chromosome Location	chr19:41333251-41333252
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	SUZ12	chr19:41332744-41333258	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr19:41333073-41333386	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41333069..41334753-chr19:41334934..41336779,2	K562	blood:

Variant related genes	Relation type
CYP2F2P	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10406996	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10521014	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11083592	1.00[CHB][hapmap]
rs11672809	1.00[CEU][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11878463	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11880938	1.00[CHB][hapmap]
rs12327581	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28450491	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28744583	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971367	0.85[EUR][1000 genomes]
rs7248461	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8107294	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109507	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3349365	chr19:41330612-41335310	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1832156	chr19:41332004-41399077	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
2	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
3	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr19:41328000-41334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:41328800-41337400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:41329000-41335400	Weak transcription	Fetal Muscle Leg	muscle
9	chr19:41329200-41334000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:41329200-41335000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:41329200-41337200	Weak transcription	A549	lung
12	chr19:41329400-41334200	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:41329800-41334000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:41329800-41334200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:41330000-41337800	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:41330000-41339800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:41330200-41333600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:41330200-41335000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:41330200-41349400	Weak transcription	Right Ventricle	heart
20	chr19:41330400-41337200	Weak transcription	HepG2	liver
21	chr19:41331000-41334000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr19:41331000-41334200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr19:41331000-41335000	Weak transcription	Lung	lung
24	chr19:41331600-41337800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:41331600-41339800	Weak transcription	Fetal Lung	lung
26	chr19:41331800-41334400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:41332000-41333400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:41332000-41333800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr19:41332400-41333400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr19:41332600-41333400	Strong transcription	Primary B cells from cord blood	blood
31	chr19:41332600-41333400	Enhancers	Primary T cells from cord blood	blood
32	chr19:41332600-41333400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr19:41332600-41333400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:41332600-41333400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr19:41332600-41333400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:41332600-41333400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:41332600-41333400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:41332600-41333400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:41332600-41333400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr19:41332600-41333400	Strong transcription	Fetal Brain Male	brain
41	chr19:41332600-41333400	Strong transcription	Pancreatic Islets	Pancreatic Islet
42	chr19:41332600-41333400	Strong transcription	Pancreas	Pancrea
43	chr19:41332600-41333400	Strong transcription	HSMM	muscle
44	chr19:41332600-41333600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:41332600-41333600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr19:41332600-41333800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:41332600-41334000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:41332600-41334000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:41332600-41334000	Strong transcription	Aorta	Aorta
50	chr19:41332600-41334000	Strong transcription	Fetal Stomach	stomach

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