Variant report

Variant	rs73053149
Chromosome Location	chr19:55791920-55791921
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	CTCF	chr19:55791880-55792030	Caco-2	colon:	n/a	n/a
2	E2F6	chr19:55791346-55792525	K562	blood:	n/a	chr19:55791627-55791636 chr19:55791778-55791787 chr19:55791657-55791667
3	SP1	chr19:55791012-55792074	H1-hESC	embryonic stem cell:	n/a	chr19:55791795-55791804 chr19:55791777-55791791 chr19:55791605-55791617 chr19:55791606-55791620 chr19:55791777-55791787 chr19:55791610-55791622 chr19:55791872-55791882 chr19:55791625-55791637 chr19:55791606-55791615 chr19:55791730-55791739 chr19:55791660-55791672 chr19:55791778-55791787 chr19:55791777-55791786 chr19:55791606-55791616 chr19:55791227-55791237 chr19:55791731-55791740 chr19:55791729-55791741 chr19:55791860-55791867 chr19:55791796-55791805 chr19:55791625-55791637 chr19:55791153-55791160 chr19:55791777-55791786 chr19:55791794-55791806 chr19:55791226-55791238 chr19:55791227-55791237 chr19:55791795-55791805 chr19:55791126-55791140 chr19:55791606-55791616 chr19:55791795-55791805 chr19:55791795-55791804 chr19:55791871-55791883 chr19:55791606-55791615 chr19:55791777-55791787 chr19:55791871-55791883 chr19:55791627-55791636 chr19:55791776-55791788 chr19:55791729-55791741 chr19:55791605-55791617 chr19:55791626-55791640 chr19:55791776-55791788 chr19:55791607-55791616 chr19:55791626-55791635 chr19:55791794-55791806
4	EP300	chr19:55791285-55792871	K562	blood:	n/a	chr19:55791504-55791511 chr19:55791657-55791666
5	HEY1	chr19:55791818-55792172	K562	blood:	n/a	n/a
6	E2F6	chr19:55791124-55792082	A549	lung:	n/a	chr19:55791627-55791636 chr19:55791778-55791787 chr19:55791657-55791667
7	SP1	chr19:55790980-55792094	A549	lung:	n/a	chr19:55791795-55791804 chr19:55791777-55791791 chr19:55791605-55791617 chr19:55791606-55791620 chr19:55791777-55791787 chr19:55791610-55791622 chr19:55791872-55791882 chr19:55791625-55791637 chr19:55791606-55791615 chr19:55791730-55791739 chr19:55791660-55791672 chr19:55791778-55791787 chr19:55791777-55791786 chr19:55791606-55791616 chr19:55791227-55791237 chr19:55791731-55791740 chr19:55791729-55791741 chr19:55791860-55791867 chr19:55791796-55791805 chr19:55791625-55791637 chr19:55791153-55791160 chr19:55791777-55791786 chr19:55791794-55791806 chr19:55791226-55791238 chr19:55791227-55791237 chr19:55791795-55791805 chr19:55791126-55791140 chr19:55791606-55791616 chr19:55791795-55791805 chr19:55791795-55791804 chr19:55791871-55791883 chr19:55791606-55791615 chr19:55791777-55791787 chr19:55791871-55791883 chr19:55791627-55791636 chr19:55791776-55791788 chr19:55791729-55791741 chr19:55791605-55791617 chr19:55791626-55791640 chr19:55791776-55791788 chr19:55791607-55791616 chr19:55791626-55791635 chr19:55791794-55791806
8	SMC3	chr19:55791193-55792186	Hela-S3	cervix:	n/a	chr19:55791780-55791790
9	GABPA	chr19:55790888-55792063	MCF-7	breast:	n/a	chr19:55791796-55791805 chr19:55791657-55791666 chr19:55791778-55791787
10	YY1	chr19:55791802-55792190	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr19:55790901-55792322	A549	lung:	n/a	chr19:55791448-55791455
12	MXI1	chr19:55790853-55792025	IMR90	lung:	n/a	chr19:55791307-55791322 chr19:55791335-55791350 chr19:55791209-55791224
13	CTCF	chr19:55791780-55791930	A549	lung:	n/a	chr19:55791781-55791791
14	JUN	chr19:55791041-55793083	K562	blood:	n/a	chr19:55792088-55792099
15	MYC	chr19:55791222-55792912	K562	blood:	n/a	chr19:55792272-55792281 chr19:55792271-55792281 chr19:55792271-55792282 chr19:55792270-55792285 chr19:55792271-55792282 chr19:55791872-55791882
16	MAZ	chr19:55791099-55792092	GM12878	blood:	n/a	chr19:55791872-55791882
17	SP1	chr19:55791372-55791924	HepG2	liver:	n/a	chr19:55791795-55791804 chr19:55791777-55791791 chr19:55791605-55791617 chr19:55791606-55791620 chr19:55791777-55791787 chr19:55791610-55791622 chr19:55791872-55791882 chr19:55791625-55791637 chr19:55791606-55791615 chr19:55791730-55791739 chr19:55791660-55791672 chr19:55791778-55791787 chr19:55791777-55791786 chr19:55791606-55791616 chr19:55791731-55791740 chr19:55791729-55791741 chr19:55791860-55791867 chr19:55791796-55791805 chr19:55791625-55791637 chr19:55791777-55791786 chr19:55791794-55791806 chr19:55791795-55791805 chr19:55791606-55791616 chr19:55791795-55791805 chr19:55791795-55791804 chr19:55791871-55791883 chr19:55791606-55791615 chr19:55791777-55791787 chr19:55791871-55791883 chr19:55791627-55791636 chr19:55791776-55791788 chr19:55791729-55791741 chr19:55791605-55791617 chr19:55791626-55791640 chr19:55791776-55791788 chr19:55791607-55791616 chr19:55791626-55791635 chr19:55791794-55791806
18	YY1	chr19:55791903-55792095	K562	blood:	n/a	n/a
19	POLR2A	chr19:55791223-55791998	GM12878	blood:	n/a	n/a
20	TAF1	chr19:55791800-55792142	K562	blood:	n/a	n/a
21	MYC	chr19:55791111-55792567	K562	blood:	n/a	chr19:55792272-55792281 chr19:55792271-55792281 chr19:55792271-55792282 chr19:55792270-55792285 chr19:55792271-55792282 chr19:55791872-55791882
22	ZBTB7A	chr19:55790804-55792208	K562	blood:	n/a	chr19:55791646-55791653 chr19:55791665-55791672 chr19:55791103-55791114
23	E2F4	chr19:55791353-55792007	MCF10A-Er-Src	breast:	n/a	chr19:55791627-55791636 chr19:55791778-55791787 chr19:55791657-55791667
24	MAZ	chr19:55791145-55792610	K562	blood:	n/a	chr19:55792272-55792281 chr19:55792271-55792281 chr19:55792271-55792282 chr19:55792270-55792285 chr19:55792271-55792282 chr19:55791872-55791882
25	POLR2A	chr19:55791265-55792122	GM15510	blood:	n/a	n/a
26	EGR1	chr19:55791111-55792014	K562	blood:	n/a	chr19:55791503-55791512 chr19:55791777-55791787 chr19:55791229-55791242 chr19:55791796-55791806 chr19:55791873-55791888 chr19:55791869-55791891 chr19:55791797-55791810 chr19:55791626-55791636 chr19:55791732-55791745
27	GABPA	chr19:55790995-55792053	K562	blood:	n/a	chr19:55791796-55791805 chr19:55791657-55791666 chr19:55791778-55791787
28	PBX3	chr19:55791258-55792159	SK-N-SH	brain:	n/a	chr19:55791889-55791898
29	REST	chr19:55790442-55791992	H1-neurons	neurons:	n/a	chr19:55791697-55791710 chr19:55791714-55791734 chr19:55791448-55791466
30	RCOR1	chr19:55791868-55792209	HepG2	liver:	n/a	n/a
31	MAZ	chr19:55790665-55792640	IMR90	lung:	n/a	chr19:55792272-55792281 chr19:55790705-55790714 chr19:55792271-55792281 chr19:55792271-55792282 chr19:55792270-55792285 chr19:55792271-55792282 chr19:55791872-55791882
32	RCOR1	chr19:55791099-55792155	Hela-S3	cervix:	n/a	n/a
33	ELF1	chr19:55791798-55792555	GM12878	blood:	n/a	chr19:55792462-55792473 chr19:55792461-55792474
34	PML	chr19:55791752-55792342	K562	blood:	n/a	n/a
35	CTCF	chr19:55791900-55792050	AG09319	gingival:	n/a	n/a
36	ZBTB7A	chr19:55791228-55792200	K562	blood:	n/a	chr19:55791646-55791653 chr19:55791665-55791672
37	YY1	chr19:55791777-55792193	K562	blood:	n/a	chr19:55791778-55791787
38	SIX5	chr19:55790760-55792366	A549	lung:	n/a	chr19:55791808-55791817
39	POLR2A	chr19:55791216-55792007	GM19193	blood:	n/a	n/a
40	MYC	chr19:55791263-55792611	K562	blood:	n/a	chr19:55792272-55792281 chr19:55792271-55792281 chr19:55792271-55792282 chr19:55792270-55792285 chr19:55792271-55792282 chr19:55791872-55791882
41	CCNT2	chr19:55791438-55792011	K562	blood:	n/a	chr19:55791607-55791616 chr19:55791855-55791864 chr19:55791778-55791787
42	CHD2	chr19:55791148-55791977	Hela-S3	cervix:	n/a	n/a
43	HCFC1	chr19:55790314-55793324	Hela-S3	cervix:	n/a	n/a
44	SP1	chr19:55791077-55792014	H1-hESC	embryonic stem cell:	n/a	chr19:55791795-55791804 chr19:55791777-55791791 chr19:55791605-55791617 chr19:55791606-55791620 chr19:55791777-55791787 chr19:55791610-55791622 chr19:55791872-55791882 chr19:55791625-55791637 chr19:55791606-55791615 chr19:55791730-55791739 chr19:55791660-55791672 chr19:55791778-55791787 chr19:55791777-55791786 chr19:55791606-55791616 chr19:55791227-55791237 chr19:55791731-55791740 chr19:55791729-55791741 chr19:55791860-55791867 chr19:55791796-55791805 chr19:55791625-55791637 chr19:55791153-55791160 chr19:55791777-55791786 chr19:55791794-55791806 chr19:55791226-55791238 chr19:55791227-55791237 chr19:55791795-55791805 chr19:55791126-55791140 chr19:55791606-55791616 chr19:55791795-55791805 chr19:55791795-55791804 chr19:55791871-55791883 chr19:55791606-55791615 chr19:55791777-55791787 chr19:55791871-55791883 chr19:55791627-55791636 chr19:55791776-55791788 chr19:55791729-55791741 chr19:55791605-55791617 chr19:55791626-55791640 chr19:55791776-55791788 chr19:55791607-55791616 chr19:55791626-55791635 chr19:55791794-55791806
45	POLR2A	chr19:55791184-55792111	Raji	blood:	n/a	n/a
46	POLR2A	chr19:55791219-55791975	GM19099	blood:	n/a	n/a
47	CTCF	chr19:55791840-55791990	GM12868	blood:	n/a	n/a
48	GABPA	chr19:55791003-55791954	HL-60	blood:	n/a	chr19:55791796-55791805 chr19:55791657-55791666 chr19:55791778-55791787
49	CTCF	chr19:55791840-55791990	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr19:55790997-55792828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55790334..55792779-chr19:55835222..55838188,2	K562	blood:
2	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
3	chr19:55789007..55794976-chr19:55917716..55921043,9	K562	blood:
4	chr19:55726866..55728775-chr19:55791537..55793466,2	K562	blood:
5	chr19:55788649..55794261-chr19:55847636..55852828,10	K562	blood:
6	chr19:55790067..55793851-chr19:55895113..55900809,14	K562	blood:
7	chr19:55685149..55688070-chr19:55790255..55792658,4	K562	blood:
8	chr19:55791629..55793260-chr19:56165234..56166753,2	K562	blood:
9	chr19:55790346..55793216-chr19:55794114..55797002,3	MCF-7	breast:
10	chr19:55789731..55792765-chr19:55910242..55912226,3	K562	blood:
11	chr19:55726686..55729337-chr19:55790310..55792413,2	MCF-7	breast:
12	chr19:55788570..55793941-chr19:55917523..55920740,5	MCF-7	breast:
13	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
14	chr19:55767441..55772178-chr19:55789060..55793175,7	MCF-7	breast:
15	chr19:55789812..55792675-chr19:55848548..55852419,5	K562	blood:
16	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
17	chr19:55725155..55730672-chr19:55787708..55794060,8	K562	blood:
18	chr19:55791853..55793584-chr19:55917740..55919945,2	MCF-7	breast:
19	chr19:55756340..55759161-chr19:55791491..55793386,3	K562	blood:
20	chr19:55791017..55793325-chr19:55986469..55989325,2	MCF-7	breast:
21	chr19:55758319..55759930-chr19:55790512..55793308,2	MCF-7	breast:
22	chr19:55789007..55793013-chr19:55917737..55920988,5	K562	blood:
23	chr19:55790204..55793295-chr19:55914436..55917425,4	K562	blood:
24	chr19:55769028..55772088-chr19:55788931..55793273,6	MCF-7	breast:
25	chr19:55790075..55793363-chr19:55895323..55900809,10	K562	blood:
26	chr19:55790480..55793295-chr19:55915028..55917425,3	K562	blood:
27	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
28	chr19:55767517..55772398-chr19:55789828..55793738,15	K562	blood:

Variant related genes	Relation type
BRSK1	TF binding region
HSPBP1	TF binding region
ENSG00000108107	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000180061	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73053144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068666	0.92[EUR][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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55790200-55792000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:55790200-55792000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:55790200-55792200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:55790400-55792000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:55790400-55792000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:55790400-55792000	Active TSS	Fetal Stomach	stomach
7	chr19:55790400-55792000	Active TSS	Rectal Smooth Muscle	rectum
8	chr19:55790400-55792000	Active TSS	A549	lung
9	chr19:55790400-55792200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:55790400-55792200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:55790400-55792200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:55790400-55792200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:55790400-55792200	Flanking Active TSS	Dnd41	blood
14	chr19:55790600-55792000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:55790600-55792000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:55790600-55792000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:55790600-55792000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:55790600-55792000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:55790600-55792000	Active TSS	NHLF	lung
20	chr19:55790600-55792200	Active TSS	Fetal Kidney	kidney
21	chr19:55790600-55792400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:55790800-55792000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:55790800-55792000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:55790800-55792000	Active TSS	Ovary	ovary
25	chr19:55790800-55792000	Active TSS	Right Atrium	heart
26	chr19:55790800-55792000	Active TSS	Small Intestine	intestine
27	chr19:55790800-55792000	Active TSS	HSMM	muscle
28	chr19:55790800-55792000	Active TSS	K562	blood
29	chr19:55790800-55792000	Active TSS	Osteobl	bone
30	chr19:55790800-55792200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:55790800-55792200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr19:55790800-55792200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:55790800-55792200	Active TSS	Aorta	Aorta
34	chr19:55790800-55792200	Active TSS	Brain Substantia Nigra	brain
35	chr19:55790800-55792200	Active TSS	HMEC	breast
36	chr19:55790800-55792400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:55790800-55792400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr19:55791000-55792000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:55791000-55792000	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:55791000-55792000	Active TSS	Brain Anterior Caudate	brain
41	chr19:55791000-55792000	Active TSS	Fetal Brain Female	brain
42	chr19:55791000-55792000	Flanking Active TSS	Placenta	Placenta
43	chr19:55791000-55792000	Active TSS	Left Ventricle	heart
44	chr19:55791000-55792000	Active TSS	Psoas Muscle	Psoas
45	chr19:55791000-55792200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr19:55791000-55792200	Active TSS	NH-A	brain
47	chr19:55791000-55792400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:55791200-55792000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:55791200-55792000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:55791200-55792000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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