Variant report

Variant	rs1673076
Chromosome Location	chr19:37340800-37340801
allele	G/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	MAX	chr19:37340648-37341544	SK-N-SH	brain:	n/a	chr19:37340701-37340711 chr19:37340798-37340805
2	ELF1	chr19:37340624-37342375	MCF-7	breast:	n/a	chr19:37341111-37341123
3	POLR2A	chr19:37340537-37341306	GM12892	blood:	n/a	n/a
4	POLR2A	chr19:37340425-37341364	GM12878	blood:	n/a	n/a
5	RELA	chr19:37340588-37342342	GM18951	blood:	n/a	n/a
6	KAP1	chr19:37340745-37342275	U2OS	brain:	n/a	n/a
7	POLR2A	chr19:37340517-37341319	GM12892	blood:	n/a	n/a
8	MYC	chr19:37340771-37341223	MCF-7	breast:	n/a	chr19:37340798-37340805
9	POLR2A	chr19:37340513-37342261	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:37340777-37341266	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:37340455-37341436	GM12892	blood:	n/a	n/a
12	ZNF143	chr19:37340799-37341951	GM12878	blood:	n/a	chr19:37341694-37341703 chr19:37341692-37341701 chr19:37341181-37341190 chr19:37341179-37341197 chr19:37341692-37341710
13	POLR2A	chr19:37340709-37341334	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr19:37340785-37341943	SK-N-SH	brain:	n/a	n/a
15	CHD2	chr19:37340553-37342488	GM12878	blood:	n/a	n/a
16	MTA3	chr19:37340364-37342274	GM12878	blood:	n/a	n/a
17	ZNF263	chr19:37340664-37342659	HEK293-T-REx	kidney:	n/a	chr19:37342020-37342029
18	RCOR1	chr19:37340644-37342029	GM12878	blood:	n/a	n/a
19	MYC	chr19:37340403-37341328	MCF10A-Er-Src	breast:	n/a	chr19:37340701-37340711 chr19:37340798-37340805
20	MXI1	chr19:37340509-37342281	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:37340707-37341323	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:37340584-37342006	GM12891	blood:	n/a	n/a
23	WRNIP1	chr19:37340586-37342481	GM12878	blood:	n/a	n/a
24	YY1	chr19:37340552-37341949	GM12878	blood:	n/a	n/a
25	RUNX3	chr19:37340419-37341497	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:37340747-37341307	MCF-7	breast:	n/a	n/a
27	MAX	chr19:37340635-37342200	NB4	blood:	n/a	chr19:37340701-37340711 chr19:37340798-37340805
28	MYC	chr19:37340602-37342132	NB4	blood:	n/a	chr19:37340701-37340711 chr19:37340798-37340805
29	POLR2A	chr19:37340638-37342185	PBDE	blood:	n/a	n/a
30	MAZ	chr19:37340724-37341433	K562	blood:	n/a	chr19:37340798-37340805
31	POLR2A	chr19:37340433-37341293	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:37340772-37341316	HUVEC	blood vessel:	n/a	n/a
33	MXI1	chr19:37340463-37342564	IMR90	lung:	n/a	n/a
34	BHLHE40	chr19:37340497-37342133	GM12878	blood:	n/a	n/a
35	USF2	chr19:37340755-37341120	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:37340653-37341261	GM12892	blood:	n/a	n/a
37	TAF1	chr19:37340648-37341374	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr19:37340654-37341193	MCF-7	breast:	n/a	chr19:37340701-37340711 chr19:37340798-37340805
39	TBP	chr19:37340134-37342236	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:37340690-37342228	H1-hESC	embryonic stem cell:	n/a	n/a
41	MXI1	chr19:37340706-37342431	HepG2	liver:	n/a	n/a
42	RELA	chr19:37340774-37342209	GM19099	blood:	n/a	n/a
43	CHD1	chr19:37340451-37341380	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:37340777-37341216	GM12891	blood:	n/a	n/a
45	GABPA	chr19:37340656-37342329	MCF-7	breast:	n/a	n/a
46	POLR2A	chr19:37340598-37342084	GM12892	blood:	n/a	n/a
47	POLR2A	chr19:37340569-37341238	GM12878	blood:	n/a	n/a
48	STAT1	chr19:37340786-37341226	GM12878	blood:	n/a	n/a
49	EP300	chr19:37340462-37341984	GM12878	blood:	n/a	chr19:37340510-37340518 chr19:37340583-37340597 chr19:37341243-37341259
50	GATA1	chr19:37340187-37341914	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:37328153..37331214-chr19:37339535..37342855,6	K562	blood:
2	chr19:37287538..37289947-chr19:37340425..37342708,2	MCF-7	breast:
3	chr19:37327752..37331008-chr19:37336124..37344037,12	MCF-7	breast:
4	chr19:37327831..37331190-chr19:37339964..37343241,7	MCF-7	breast:

Variant related genes	Relation type
ZNF345	TF binding region
ENSG00000267254	Chromatin interaction
ENSG00000197863	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10417344	0.91[YRI][hapmap]
rs1148385	0.86[AFR][1000 genomes]
rs1148389	0.85[AFR][1000 genomes]
rs1148392	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1227565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227576	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1227795	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1227798	0.82[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1227808	0.83[YRI][hapmap]
rs1227813	0.82[ASW][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap]
rs1227868	0.81[AFR][1000 genomes]
rs1302669	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1623946	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1631197	0.86[AFR][1000 genomes]
rs1643423	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1726720	0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1726721	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1726722	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17468285	0.82[ASW][hapmap];0.91[YRI][hapmap]
rs475196	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508541	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516635	1.00[AMR][1000 genomes]
rs562135	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs562429	1.00[AMR][1000 genomes]
rs569886	1.00[AMR][1000 genomes]
rs7251193	0.82[ASW][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap]
rs7252295	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37339400-37342200	Active TSS	NHEK	skin
2	chr19:37339800-37341600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:37339800-37342800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:37340000-37340800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr19:37340000-37340800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:37340000-37340800	Flanking Active TSS	Liver	Liver
7	chr19:37340000-37341000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr19:37340000-37341000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:37340000-37341000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:37340000-37341200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:37340000-37341400	Active TSS	Brain Germinal Matrix	brain
12	chr19:37340000-37341600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:37340000-37342200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:37340000-37342200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:37340000-37342200	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:37340000-37342200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr19:37340000-37342200	Active TSS	HMEC	breast
18	chr19:37340000-37342400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr19:37340000-37342400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:37340000-37342400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:37340000-37342400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:37340000-37342400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:37340000-37342400	Active TSS	Rectal Smooth Muscle	rectum
24	chr19:37340000-37342800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:37340000-37342800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:37340000-37342800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:37340000-37342800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:37340000-37343000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr19:37340000-37343000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:37340000-37343000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr19:37340200-37340800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:37340200-37341000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr19:37340200-37341000	Flanking Active TSS	HUVEC	blood vessel
34	chr19:37340200-37341200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr19:37340200-37342200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr19:37340200-37342200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:37340200-37342200	Active TSS	Right Atrium	heart
38	chr19:37340200-37342200	Active TSS	Thymus	Thymus
39	chr19:37340200-37342200	Active TSS	GM12878-XiMat	blood
40	chr19:37340200-37342400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37340200-37342400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr19:37340200-37342400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:37340200-37342400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr19:37340200-37342400	Active TSS	Colon Smooth Muscle	Colon
45	chr19:37340200-37342400	Active TSS	Fetal Lung	lung
46	chr19:37340200-37342600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr19:37340200-37342600	Active TSS	Fetal Stomach	stomach
48	chr19:37340200-37342800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:37340200-37342800	Active TSS	NHDF-Ad	bronchial
50	chr19:37340200-37343000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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