Variant report

Variant	rs7251903
Chromosome Location	chr19:39184811-39184812
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	chr19:39184074-39184912	HL-60	blood:	n/a	n/a
2	EP300	chr19:39183275-39184928	A549	lung:	n/a	n/a
3	POLR2A	chr19:39183815-39184843	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr19:39184437-39184845	GM12892	blood:	n/a	n/a
5	SP1	chr19:39183659-39184991	A549	lung:	n/a	chr19:39184241-39184252
6	MAX	chr19:39184054-39184901	SK-N-SH	brain:	n/a	chr19:39184684-39184694
7	EP300	chr19:39184053-39184831	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr19:39184730-39184845	GM12878	blood:	n/a	n/a
9	EP300	chr19:39182406-39185002	SK-N-SH	brain:	n/a	n/a
10	RUNX3	chr19:39184400-39184890	GM12878	blood:	n/a	n/a
11	TCF12	chr19:39183783-39184857	SK-N-SH	brain:	n/a	n/a
12	MAX	chr19:39183445-39184827	A549	lung:	n/a	chr19:39184684-39184694
13	POLR2A	chr19:39183552-39184922	U87	brain:	n/a	n/a
14	EP300	chr19:39183449-39184973	A549	lung:	n/a	n/a
15	POLR2A	chr19:39184386-39184975	HL-60	blood:	n/a	n/a
16	EP300	chr19:39183783-39184831	SK-N-SH	brain:	n/a	n/a
17	EP300	chr19:39184565-39184852	SK-N-SH_RA	brain:	n/a	n/a
18	JUND	chr19:39182457-39184939	A549	lung:	n/a	chr19:39184582-39184593
19	POLR2A	chr19:39183915-39184892	PFSK-1	brain:	n/a	n/a
20	FOSL2	chr19:39183909-39184870	SK-N-SH	brain:	n/a	chr19:39184582-39184593
21	SP1	chr19:39183229-39184861	A549	lung:	n/a	chr19:39184241-39184252
22	POLR2A	chr19:39183419-39184928	U87	brain:	n/a	n/a
23	POLR2A	chr19:39183919-39184922	HUVEC	blood vessel:	n/a	n/a
24	EP300	chr19:39183343-39184811	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr19:39183961-39184816	SK-N-SH	brain:	n/a	chr19:39184684-39184694
26	FOSL2	chr19:39183484-39184860	A549	lung:	n/a	chr19:39184582-39184593
27	MXI1	chr19:39182401-39184893	SK-N-SH	brain:	n/a	n/a
28	SIX5	chr19:39182347-39184995	A549	lung:	n/a	n/a
29	POLR2A	chr19:39182417-39184864	HCT-116	colon:	n/a	n/a
30	GATA3	chr19:39182220-39184991	A549	lung:	n/a	chr19:39183348-39183364 chr19:39183970-39183981
31	FOSL1	chr19:39183784-39185003	HCT-116	colon:	n/a	chr19:39184582-39184593
32	POLR2A	chr19:39164600-39206677	PANC-1	pancreas:	n/a	n/a
33	REST	chr19:39183839-39184858	A549	lung:	n/a	chr19:39184771-39184784
34	POLR2A	chr19:39183028-39185020	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr19:39184693-39184880	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:39182367-39184842	SK-N-SH	brain:	n/a	n/a
37	MAX	chr19:39182358-39184993	A549	lung:	n/a	chr19:39184684-39184694 chr19:39182638-39182648
38	RUNX3	chr19:39184377-39184925	GM12878	blood:	n/a	n/a
39	PML	chr19:39184392-39184890	GM12878	blood:	n/a	chr19:39184614-39184622
40	POLR2A	chr19:39184436-39184916	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:39184494-39184897	K562	blood:	n/a	n/a
42	MYC	chr19:39184303-39184878	NB4	blood:	n/a	chr19:39184684-39184694
43	MAX	chr19:39184066-39184900	NB4	blood:	n/a	chr19:39184684-39184694
44	TCF12	chr19:39181891-39184974	A549	lung:	n/a	n/a
45	POLR2A	chr19:39164601-39206634	PANC-1	pancreas:	n/a	n/a
46	PBX3	chr19:39183921-39184908	SK-N-SH	brain:	n/a	n/a
47	SPI1	chr19:39184459-39184867	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39183521..39187102-chr19:39327849..39329398,3	MCF-7	breast:
2	chr19:39184301..39186024-chr19:39197035..39198967,2	K562	blood:
3	chr19:39184438..39186099-chr19:39190948..39193871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267375	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000130402	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10403540	0.96[EUR][1000 genomes]
rs10405232	1.00[YRI][hapmap]
rs10405261	1.00[YRI][hapmap]
rs10406778	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10413936	1.00[YRI][hapmap]
rs10415219	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs10415646	0.98[EUR][1000 genomes]
rs10420476	1.00[YRI][hapmap]
rs10421087	1.00[YRI][hapmap]
rs10421560	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11083475	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes]
rs12460849	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs12462270	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes]
rs13343794	0.98[EUR][1000 genomes]
rs13344413	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs16972767	1.00[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs2279144	0.96[CEU][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs2287734	1.00[YRI][hapmap]
rs2303040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28488032	0.94[EUR][1000 genomes]
rs28624276	0.94[EUR][1000 genomes]
rs3745859	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs3786835	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs3786837	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3786839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3786845	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs3786848	0.96[EUR][1000 genomes]
rs3786851	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes]
rs55876653	0.81[EUR][1000 genomes]
rs55945853	0.84[EUR][1000 genomes]
rs56113315	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56365761	0.82[EUR][1000 genomes]
rs62120083	0.84[EUR][1000 genomes]
rs62121814	0.84[EUR][1000 genomes]
rs62121816	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62121818	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7252589	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7254100	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8107416	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs8111746	0.91[EUR][1000 genomes]
rs883394	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs883433	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes]
rs979971	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs979972	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39164400-39200200	Genic enhancers	Fetal Intestine Small	intestine
2	chr19:39177200-39195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:39178600-39187800	Enhancers	Left Ventricle	heart
4	chr19:39178600-39190600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr19:39178600-39198200	Genic enhancers	Fetal Intestine Large	intestine
6	chr19:39179000-39189400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:39179600-39205800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:39180000-39186000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:39180000-39191600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:39180000-39192400	Genic enhancers	Lung	lung
11	chr19:39180600-39185000	Enhancers	NHDF-Ad	bronchial
12	chr19:39180800-39185000	Enhancers	Pancreas	Pancrea
13	chr19:39180800-39187000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:39181000-39186600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:39181400-39186800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:39181800-39186400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:39182000-39185600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr19:39182000-39194200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr19:39182200-39187800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:39182200-39192600	Enhancers	Liver	Liver
21	chr19:39182200-39193400	Enhancers	Right Atrium	heart
22	chr19:39182200-39193800	Genic enhancers	Fetal Stomach	stomach
23	chr19:39182200-39214200	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr19:39182400-39186000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:39182400-39186600	Enhancers	Primary hematopoietic stem cells	blood
27	chr19:39182400-39187000	Enhancers	Stomach Mucosa	stomach
28	chr19:39182400-39189600	Enhancers	Brain Angular Gyrus	brain
29	chr19:39182400-39193600	Genic enhancers	Esophagus	oesophagus
30	chr19:39182600-39185000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:39182600-39185600	Genic enhancers	Spleen	Spleen
32	chr19:39182600-39185800	Enhancers	Primary B cells from peripheral blood	blood
33	chr19:39182600-39185800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:39182600-39186000	Enhancers	Fetal Thymus	thymus
35	chr19:39182600-39186200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:39182600-39186400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr19:39182600-39186600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
38	chr19:39182600-39186800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr19:39182600-39190200	Genic enhancers	Colonic Mucosa	Colon
40	chr19:39182600-39190800	Genic enhancers	HepG2	liver
41	chr19:39182600-39193800	Genic enhancers	Rectal Mucosa Donor 31	rectum
42	chr19:39182800-39186000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr19:39182800-39186000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr19:39182800-39186400	Enhancers	Primary T cells from cord blood	blood
45	chr19:39183000-39185600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:39183000-39185800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr19:39183000-39186200	Enhancers	Fetal Kidney	kidney
48	chr19:39183000-39190000	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:39183000-39196600	Enhancers	Fetal Heart	heart
50	chr19:39183200-39188800	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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