Variant report

Variant	rs2722707
Chromosome Location	chr19:44808997-44808998
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	POLR2A	chr19:44808526-44809415	U87	brain:	n/a	n/a
2	POLR2A	chr19:44808883-44809335	ECC-1	luminal epithelium:	n/a	n/a
3	ELF1	chr19:44808852-44809342	K562	blood:	n/a	chr19:44809160-44809173
4	FOS	chr19:44808933-44809328	MCF10A-Er-Src	breast:	n/a	chr19:44809113-44809125 chr19:44808948-44808957 chr19:44809113-44809124 chr19:44809115-44809123 chr19:44809114-44809124
5	POU2F2	chr19:44808823-44809374	GM12891	blood:	n/a	chr19:44809006-44809018
6	SIN3A	chr19:44808585-44809461	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr19:44808746-44809366	Hela-S3	cervix:	n/a	chr19:44809066-44809075
8	ELF1	chr19:44808778-44809513	GM12878	blood:	n/a	chr19:44809160-44809173
9	MAX	chr19:44808929-44809315	HepG2	liver:	n/a	chr19:44809066-44809075
10	POLR2A	chr19:44808610-44809412	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr19:44808806-44809202	K562	blood:	n/a	n/a
12	RAD21	chr19:44808824-44809393	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr19:44808869-44809346	MCF10A-Er-Src	breast:	n/a	n/a
14	SIN3AK20	chr19:44808961-44809427	PFSK-1	brain:	n/a	n/a
15	GABPA	chr19:44808843-44809467	HL-60	blood:	n/a	chr19:44809219-44809226
16	POLR2A	chr19:44808847-44809336	GM18505	blood:	n/a	n/a
17	POLR2A	chr19:44808908-44809335	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:44808996-44809230	GM12891	blood:	n/a	n/a
19	MAZ	chr19:44808877-44809403	K562	blood:	n/a	chr19:44809066-44809075
20	UBTF	chr19:44808847-44809346	K562	blood:	n/a	n/a
21	MAX	chr19:44808717-44809388	H1-hESC	embryonic stem cell:	n/a	chr19:44809066-44809075
22	TAF1	chr19:44808847-44809400	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr19:44808734-44809367	SK-N-SH	brain:	n/a	chr19:44809270-44809283
24	POLR2A	chr19:44808846-44809292	K562	blood:	n/a	n/a
25	POLR2A	chr19:44808912-44809343	GM15510	blood:	n/a	n/a
26	RCOR1	chr19:44808921-44809304	HepG2	liver:	n/a	n/a
27	CEBPB	chr19:44808507-44809234	Hela-S3	cervix:	n/a	chr19:44808662-44808674
28	TAF1	chr19:44808917-44809297	Hela-S3	cervix:	n/a	n/a
29	HMGN3	chr19:44808789-44809141	K562	blood:	n/a	n/a
30	SIX5	chr19:44808969-44809478	H1-hESC	embryonic stem cell:	n/a	chr19:44809255-44809264 chr19:44809253-44809262
31	POLR2A	chr19:44808437-44809549	HUVEC	blood vessel:	n/a	n/a
32	MYC	chr19:44808740-44809360	NB4	blood:	n/a	chr19:44809066-44809075
33	GABPA	chr19:44808839-44809372	HepG2	liver:	n/a	chr19:44809219-44809226
34	TBL1XR1	chr19:44808929-44809422	K562	blood:	n/a	n/a
35	POLR2A	chr19:44808818-44809407	GM12892	blood:	n/a	n/a
36	SPI1	chr19:44808997-44809433	HL-60	blood:	n/a	chr19:44809161-44809174
37	ELF1	chr19:44808958-44809368	HepG2	liver:	n/a	chr19:44809160-44809173
38	MAZ	chr19:44808913-44809413	GM12878	blood:	n/a	chr19:44809066-44809075
39	E2F6	chr19:44808590-44809486	A549	lung:	n/a	n/a
40	HEY1	chr19:44808773-44809288	K562	blood:	n/a	n/a
41	TBP	chr19:44808288-44809487	Hela-S3	cervix:	n/a	n/a
42	ZBTB7A	chr19:44808800-44809200	K562	blood:	n/a	n/a
43	BRCA1	chr19:44808846-44809419	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr19:44808734-44809428	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr19:44808794-44809365	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr19:44808231-44809594	A549	lung:	n/a	chr19:44809113-44809120
47	FOSL2	chr19:44808814-44809340	HepG2	liver:	n/a	chr19:44809113-44809125 chr19:44808948-44808957 chr19:44809115-44809123 chr19:44809114-44809124
48	JUN	chr19:44808253-44809498	K562	blood:	n/a	chr19:44809113-44809125 chr19:44808948-44808957 chr19:44809115-44809123 chr19:44809114-44809124
49	TAF1	chr19:44808894-44809233	GM12891	blood:	n/a	n/a
50	POLR2A	chr19:44808832-44809226	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44808450..44809414-chr22:45705051..45705969,2	HCT-116	colon:
2	chr12:7052728..7053365-chr19:44808729..44809403,2	HCT-116	colon:
3	chr19:44711481..44713542-chr19:44808275..44810056,2	K562	blood:
4	chr19:44619122..44621530-chr19:44807585..44810251,2	K562	blood:
5	chr19:44763689..44765733-chr19:44807177..44810075,2	MCF-7	breast:

Variant related genes	Relation type
ZNF235	TF binding region
ENSG00000238923	Chromatin interaction
ENSG00000256294	Chromatin interaction
ENSG00000159915	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000100376	Chromatin interaction
ENSG00000131115	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1233430	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1233431	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233432	0.86[EUR][1000 genomes]
rs1233433	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1233434	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1233436	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1233438	0.86[EUR][1000 genomes]
rs1233442	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233443	0.81[EUR][1000 genomes]
rs1233445	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233446	0.86[EUR][1000 genomes]
rs1233449	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233450	0.86[EUR][1000 genomes]
rs1233451	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233452	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1233453	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1233457	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1233458	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233460	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233461	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233462	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233469	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233471	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1233472	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233473	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1234839	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1234840	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1235163	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1237178	0.86[EUR][1000 genomes]
rs1237179	0.81[CEU][hapmap]
rs1238786	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1347349	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1369100	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16978991	0.80[CEU][hapmap]
rs17657025	0.85[CEU][hapmap]
rs1836273	0.82[ASN][1000 genomes]
rs2117385	0.81[CEU][hapmap]
rs2117387	0.82[CEU][hapmap]
rs2164112	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168990	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2196185	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2249402	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2262860	0.89[ASN][1000 genomes]
rs2446491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466421	1.00[ASN][1000 genomes]
rs2571076	0.82[CEU][hapmap]
rs2571100	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2571105	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2571106	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609883	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609886	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2609887	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609889	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2609890	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609898	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609905	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609906	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2609909	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2722708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722711	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722715	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722716	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722717	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722718	1.00[ASN][1000 genomes]
rs2722719	1.00[ASN][1000 genomes]
rs2722721	0.80[JPT][hapmap];0.99[ASN][1000 genomes]
rs2722735	0.89[ASN][1000 genomes]
rs2722736	0.89[ASN][1000 genomes]
rs2722738	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722739	0.84[ASN][1000 genomes]
rs59555311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509153	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898176	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898177	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898179	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs984116	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44807400-44809800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:44807600-44809200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:44807600-44809600	Active TSS	A549	lung
4	chr19:44807600-44809800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:44807600-44809800	Active TSS	Psoas Muscle	Psoas
6	chr19:44807600-44810600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr19:44807800-44809600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:44807800-44809800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:44808000-44809000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:44808000-44809000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:44808000-44809600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:44808000-44809600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:44808000-44809600	Active TSS	Colon Smooth Muscle	Colon
14	chr19:44808000-44809800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:44808000-44809800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:44808000-44809800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44808000-44810200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:44808200-44809000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr19:44808200-44809200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr19:44808200-44809400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:44808200-44809400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:44808200-44809400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:44808200-44809400	Active TSS	NHEK	skin
24	chr19:44808200-44809600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:44808200-44809600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr19:44808200-44809600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44808200-44809600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:44808200-44809600	Active TSS	Brain Hippocampus Middle	brain
29	chr19:44808200-44809600	Active TSS	Fetal Intestine Large	intestine
30	chr19:44808200-44809600	Active TSS	Fetal Intestine Small	intestine
31	chr19:44808200-44809600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:44808200-44809600	Active TSS	Fetal Muscle Trunk	muscle
33	chr19:44808200-44809600	Active TSS	Right Atrium	heart
34	chr19:44808200-44809600	Active TSS	Stomach Mucosa	stomach
35	chr19:44808200-44809800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr19:44808200-44809800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr19:44808200-44809800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr19:44808200-44809800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:44808200-44809800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:44808200-44809800	Active TSS	Fetal Brain Female	brain
41	chr19:44808200-44809800	Active TSS	Fetal Kidney	kidney
42	chr19:44808200-44809800	Active TSS	Fetal Stomach	stomach
43	chr19:44808200-44809800	Active TSS	Hela-S3	cervix
44	chr19:44808200-44809800	Active TSS	HSMM	muscle
45	chr19:44808200-44809800	Active TSS	HSMMtube	muscle
46	chr19:44808200-44809800	Active TSS	NHDF-Ad	bronchial
47	chr19:44808200-44809800	Active TSS	NHLF	lung
48	chr19:44808200-44810000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:44808200-44810000	Active TSS	Fetal Brain Male	brain
50	chr19:44808400-44809000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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