Variant report

Variant	rs8113704
Chromosome Location	chr19:36387881-36387882
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	chr19:36386729-36388167	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:36386656-36388299	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:36387674-36387958	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:36387481-36388086	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:36383824-36391793	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:36386218-36391884	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:36386851-36388157	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:36386826-36388080	GM19193	blood:	n/a	n/a
9	POLR2A	chr19:36387566-36388139	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:36387624-36388238	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:36386670-36388207	GM12892	blood:	n/a	n/a
12	POLR2A	chr19:36387578-36388177	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:36387509-36388061	GM12892	blood:	n/a	n/a
14	POLR2A	chr19:36387548-36387883	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36387498..36389148-chr19:36389747..36391411,2	K562	blood:

Variant related genes	Relation type
NFKBID	TF binding region
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11878547	0.81[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11880785	0.88[EUR][1000 genomes]
rs16960862	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16970744	1.00[CEU][hapmap]
rs17173033	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1802029	0.81[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs230260	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs33964243	0.88[ASN][1000 genomes]
rs376240	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs401824	1.00[MEX][hapmap]
rs404299	1.00[MEX][hapmap]
rs443186	0.83[CHD][hapmap];1.00[MEX][hapmap]
rs4806227	0.92[EUR][1000 genomes]
rs56264349	0.88[ASN][1000 genomes]
rs57113091	0.92[EUR][1000 genomes]
rs58422001	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7251744	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7251879	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252902	0.87[ASN][1000 genomes]
rs7253040	0.88[ASN][1000 genomes]
rs7253826	0.88[ASN][1000 genomes]
rs7254113	0.81[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7257789	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs7258154	0.88[ASN][1000 genomes]
rs7258214	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7258909	1.00[ASW][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8105153	0.82[GIH][hapmap];0.88[ASN][1000 genomes]
rs8106480	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8106495	0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8108360	0.88[ASN][1000 genomes]
rs8108459	0.88[ASN][1000 genomes]
rs8110231	0.81[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8111740	0.88[ASN][1000 genomes]
rs8113524	0.81[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs879407	1.00[ASW][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8113704	CHI3L2	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
3	chr19:36370600-36389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:36370800-36389200	Weak transcription	HSMM	muscle
5	chr19:36370800-36389400	Weak transcription	HUVEC	blood vessel
6	chr19:36370800-36389400	Weak transcription	NH-A	brain
7	chr19:36373400-36389600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:36373600-36389200	Weak transcription	Fetal Brain Male	brain
9	chr19:36376400-36388400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:36377600-36388800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:36377600-36388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:36377600-36389000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:36377600-36389000	Strong transcription	Fetal Stomach	stomach
14	chr19:36377600-36389400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:36377800-36388600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:36377800-36388600	Strong transcription	Spleen	Spleen
17	chr19:36377800-36389000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:36378000-36388000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:36378000-36388000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:36378000-36388600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:36378200-36388400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr19:36378200-36388600	Strong transcription	Lung	lung
23	chr19:36378200-36388800	Strong transcription	Fetal Intestine Small	intestine
24	chr19:36378200-36389000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:36378200-36389200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:36378600-36388800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:36378800-36389000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:36378800-36389400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:36379600-36388800	Weak transcription	Stomach Mucosa	stomach
30	chr19:36379600-36389400	Weak transcription	HSMMtube	muscle
31	chr19:36380800-36389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:36380800-36389200	Weak transcription	Brain Substantia Nigra	brain
33	chr19:36380800-36389600	Weak transcription	Fetal Kidney	kidney
34	chr19:36381000-36388600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:36381200-36390000	Weak transcription	K562	blood
36	chr19:36381400-36389200	Weak transcription	Fetal Brain Female	brain
37	chr19:36381800-36389200	Weak transcription	Small Intestine	intestine
38	chr19:36382000-36389600	Weak transcription	Fetal Lung	lung
39	chr19:36382200-36389000	Weak transcription	Brain Angular Gyrus	brain
40	chr19:36382200-36389000	Weak transcription	Hela-S3	cervix
41	chr19:36382200-36389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:36383200-36388600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr19:36383400-36388200	Strong transcription	Liver	Liver
44	chr19:36383400-36388800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:36383600-36388800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:36383600-36388800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:36383600-36389000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:36383800-36388000	Strong transcription	Placenta	Placenta
49	chr19:36383800-36388000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr19:36383800-36388600	Strong transcription	Duodenum Mucosa	Duodenum

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