Variant report

Variant	rs73931635
Chromosome Location	chr19:37095908-37095909
allele	C/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	chr19:37095596-37096798	GM15510	blood:	n/a	n/a
2	POLR2A	chr19:37095588-37096843	GM19099	blood:	n/a	n/a
3	POLR2A	chr19:37095662-37096632	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:37095559-37096914	GM12878	blood:	n/a	n/a
5	CEBPD	chr19:37095706-37096419	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:37095602-37096934	GM12878	blood:	n/a	n/a
7	MAX	chr19:37095553-37097056	GM12878	blood:	n/a	chr19:37095706-37095716 chr19:37096192-37096201
8	USF2	chr19:37095766-37096179	HepG2	liver:	n/a	n/a
9	BACH1	chr19:37095537-37096710	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:37095691-37096592	HepG2	liver:	n/a	n/a
11	YY1	chr19:37095579-37096043	GM12878	blood:	n/a	chr19:37095803-37095812 chr19:37095705-37095714
12	CHD2	chr19:37095541-37097003	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:37095803-37096791	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr19:37095423-37097058	GM12878	blood:	n/a	n/a
15	STAT1	chr19:37095651-37096309	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:37095908-37095989	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:37095650-37096426	HepG2	liver:	n/a	n/a
18	CREB1	chr19:37095400-37096370	HepG2	liver:	n/a	n/a
19	CTCF	chr19:37095760-37095910	GM12868	blood:	n/a	chr19:37095767-37095775
20	ZNF143	chr19:37095628-37096382	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:37095539-37096687	HepG2	liver:	n/a	n/a
22	SIN3A	chr19:37095616-37096913	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:37095624-37096704	GM12892	blood:	n/a	n/a
24	TCF12	chr19:37095414-37096700	ECC-1	luminal epithelium:	n/a	n/a
25	KAP1	chr19:37095711-37096186	HEK293	kidney:	n/a	n/a
26	SP1	chr19:37095467-37095939	GM12878	blood:	n/a	chr19:37095704-37095714 chr19:37095704-37095718 chr19:37095704-37095713 chr19:37095802-37095811 chr19:37095703-37095715 chr19:37095704-37095713 chr19:37095802-37095816 chr19:37095802-37095812 chr19:37095801-37095813 chr19:37095803-37095812 chr19:37095704-37095714 chr19:37095801-37095813 chr19:37095705-37095714 chr19:37095703-37095715
27	POU2F2	chr19:37095493-37096021	GM12891	blood:	n/a	chr19:37095802-37095814 chr19:37095897-37095909
28	CREB1	chr19:37095332-37096236	GM12878	blood:	n/a	n/a
29	GATA1	chr19:37095181-37096395	PBDE	blood:	n/a	chr19:37095647-37095663 chr19:37095650-37095659
30	MAX	chr19:37095431-37097005	HepG2	liver:	n/a	chr19:37095706-37095716 chr19:37096192-37096201
31	BHLHE40	chr19:37095571-37097079	GM12878	blood:	n/a	n/a
32	MAZ	chr19:37095571-37096270	HepG2	liver:	n/a	chr19:37095706-37095716 chr19:37096192-37096201
33	POLR2A	chr19:37095459-37097023	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr19:37095760-37096620	GM12892	blood:	n/a	n/a
35	POLR2A	chr19:37095462-37096908	GM12878	blood:	n/a	n/a
36	CTCF	chr19:37095719-37095928	GM19239	blood:	n/a	chr19:37095905-37095913 chr19:37095767-37095775
37	MAX	chr19:37095414-37096988	ECC-1	luminal epithelium:	n/a	chr19:37095706-37095716 chr19:37096192-37096201
38	EGR1	chr19:37095592-37096412	ECC-1	luminal epithelium:	n/a	chr19:37095802-37095812 chr19:37095704-37095714 chr19:37095706-37095716 chr19:37095706-37095719 chr19:37095803-37095813 chr19:37095828-37095843
39	POLR2A	chr19:37095580-37096858	GM18505	blood:	n/a	n/a
40	MXI1	chr19:37095444-37096304	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:37095498-37097017	HL-60	blood:	n/a	n/a
42	MXI1	chr19:37095362-37096612	HepG2	liver:	n/a	n/a
43	RELA	chr19:37095662-37096920	GM19099	blood:	n/a	n/a
44	MYC	chr19:37095883-37095908	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr19:37095823-37095926	MCF-7	breast:	n/a	n/a
46	TCF12	chr19:37095600-37096028	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:37095863-37096478	ProgFib	skin:	n/a	n/a
48	ZBTB7A	chr19:37095557-37096703	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr19:37095587-37096717	GM18951	blood:	n/a	n/a
50	POLR2A	chr19:37095831-37096710	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37094753..37097505-chr19:37099237..37101505,2	K562	blood:

Variant related genes	Relation type
ZNF382	TF binding region
ENSG00000161298	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1986078	0.81[AFR][1000 genomes]
rs55824249	0.81[AFR][1000 genomes]
rs56058263	0.81[AFR][1000 genomes]
rs57979220	0.81[AFR][1000 genomes]
rs59181027	0.81[AFR][1000 genomes]
rs59185276	0.81[AFR][1000 genomes]
rs73928564	0.81[AFR][1000 genomes]
rs73931035	0.81[AFR][1000 genomes]
rs73931630	0.81[AFR][1000 genomes]
rs73931638	0.81[AFR][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	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37094000-37097200	ZNF genes & repeats	Liver	Liver
2	chr19:37095000-37096000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:37095000-37096000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:37095000-37096600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr19:37095000-37096600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr19:37095000-37096600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
7	chr19:37095000-37096800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:37095000-37097200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:37095000-37097200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:37095200-37096000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr19:37095200-37096000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:37095200-37096000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:37095200-37096000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:37095200-37096400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:37095200-37096600	Active TSS	Left Ventricle	heart
16	chr19:37095200-37096600	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:37095200-37096600	Active TSS	NHLF	lung
18	chr19:37095200-37096800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:37095200-37096800	Active TSS	Colon Smooth Muscle	Colon
20	chr19:37095200-37096800	Active TSS	Fetal Intestine Small	intestine
21	chr19:37095200-37096800	Active TSS	Fetal Kidney	kidney
22	chr19:37095200-37096800	Active TSS	Psoas Muscle	Psoas
23	chr19:37095200-37096800	Active TSS	Rectal Smooth Muscle	rectum
24	chr19:37095200-37096800	Active TSS	HSMM	muscle
25	chr19:37095200-37097000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:37095200-37097000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:37095200-37097000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:37095200-37097000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:37095200-37097000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:37095200-37097000	Active TSS	Colonic Mucosa	Colon
31	chr19:37095200-37097000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:37095200-37097000	Active TSS	Fetal Muscle Trunk	muscle
33	chr19:37095200-37097000	ZNF genes & repeats	Gastric	stomach
34	chr19:37095200-37097000	Active TSS	Right Atrium	heart
35	chr19:37095200-37097200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr19:37095200-37097200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr19:37095200-37097200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:37095200-37097200	Active TSS	NHDF-Ad	bronchial
39	chr19:37095200-37097400	ZNF genes & repeats	Lung	lung
40	chr19:37095400-37096000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:37095400-37096400	Flanking Active TSS	Pancreas	Pancrea
42	chr19:37095400-37096600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr19:37095400-37096600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:37095400-37096600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:37095400-37096600	Active TSS	Fetal Heart	heart
46	chr19:37095400-37096600	Active TSS	GM12878-XiMat	blood
47	chr19:37095400-37096800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:37095400-37096800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr19:37095400-37096800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:37095400-37096800	Active TSS	Muscle Satellite Cultured Cells	--

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