Variant report

Variant	rs73935006
Chromosome Location	chr19:44037153-44037154
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	MYC	chr19:44037121-44037782	K562	blood:	n/a	n/a
2	POLR2A	chr19:44036634-44038136	A549	lung:	n/a	n/a
3	POLR2A	chr19:44037038-44038436	HL-60	blood:	n/a	n/a
4	ATF3	chr19:44036698-44037626	A549	lung:	n/a	n/a
5	MYC	chr19:44036850-44037476	MCF10A-Er-Src	breast:	n/a	chr19:44037089-44037099
6	POLR2A	chr19:44037116-44038542	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:44036778-44038675	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr19:44037126-44037485	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT1	chr19:44037129-44037675	GM12878	blood:	n/a	n/a
10	MXI1	chr19:44036998-44038007	GM12878	blood:	n/a	n/a
11	TEAD4	chr19:44036618-44037940	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr19:44036630-44038157	GM12878	blood:	n/a	n/a
13	TAF1	chr19:44036707-44037673	A549	lung:	n/a	n/a
14	MAX	chr19:44036703-44037776	SK-N-SH	brain:	n/a	chr19:44037089-44037099
15	TCF12	chr19:44036427-44037712	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr19:44036742-44038486	GM15510	blood:	n/a	n/a
17	MAX	chr19:44036775-44037673	MCF-7	breast:	n/a	chr19:44037089-44037099
18	PML	chr19:44036741-44038435	GM12878	blood:	n/a	n/a
19	PBX3	chr19:44036843-44037678	A549	lung:	n/a	n/a
20	EBF1	chr19:44036715-44037690	GM12878	blood:	n/a	chr19:44037649-44037658 chr19:44037649-44037658
21	POLR2A	chr19:44037070-44038196	U87	brain:	n/a	n/a
22	ELK1	chr19:44036707-44037773	Hela-S3	cervix:	n/a	n/a
23	NFYB	chr19:44036817-44037705	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:44037040-44038201	GM12892	blood:	n/a	n/a
25	RCOR1	chr19:44037066-44038017	K562	blood:	n/a	n/a
26	USF2	chr19:44037135-44037672	H1-hESC	embryonic stem cell:	n/a	chr19:44037302-44037318
27	NFATC1	chr19:44036779-44038360	GM12878	blood:	n/a	n/a
28	FOXA2	chr19:44036677-44037726	A549	lung:	n/a	n/a
29	EBF1	chr19:44036832-44038227	GM12878	blood:	n/a	chr19:44037649-44037658 chr19:44037649-44037658 chr19:44038106-44038115 chr19:44038105-44038115
30	MTA3	chr19:44037041-44038072	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:44036481-44038538	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr19:44036919-44038321	Hela-S3	cervix:	n/a	n/a
33	PBX3	chr19:44036821-44037849	A549	lung:	n/a	n/a
34	REST	chr19:44036761-44038410	H1-neurons	neurons:	n/a	n/a
35	SRF	chr19:44036397-44037693	MCF-7	breast:	n/a	chr19:44037089-44037099
36	NRF1	chr19:44036969-44037653	H1-hESC	embryonic stem cell:	n/a	chr19:44037439-44037450 chr19:44037644-44037653 chr19:44037436-44037450
37	POLR2A	chr19:44036698-44038585	NB4	blood:	n/a	n/a
38	EGR1	chr19:44036841-44037766	MCF-7	breast:	n/a	chr19:44037085-44037095 chr19:44037086-44037095 chr19:44037303-44037313 chr19:44037643-44037653 chr19:44037085-44037098 chr19:44037470-44037480 chr19:44037085-44037098 chr19:44037084-44037098 chr19:44037084-44037099 chr19:44037085-44037098 chr19:44037085-44037098 chr19:44037469-44037483
39	POLR2A	chr19:44037137-44037449	GM12891	blood:	n/a	n/a
40	SP1	chr19:44036538-44038618	A549	lung:	n/a	chr19:44037652-44037664 chr19:44037090-44037099 chr19:44037642-44037654 chr19:44038151-44038160 chr19:44038402-44038414 chr19:44037088-44037100 chr19:44037643-44037653 chr19:44038080-44038089 chr19:44037642-44037654 chr19:44037084-44037093 chr19:44038102-44038111 chr19:44038100-44038112 chr19:44038079-44038089 chr19:44037381-44037390 chr19:44038150-44038164 chr19:44038303-44038315 chr19:44038403-44038417 chr19:44038195-44038207 chr19:44038078-44038090 chr19:44038234-44038246 chr19:44038078-44038090 chr19:44038101-44038110 chr19:44037089-44037103 chr19:44037558-44037567 chr19:44038150-44038160 chr19:44038234-44038246 chr19:44037654-44037663 chr19:44037643-44037652 chr19:44038079-44038089 chr19:44038149-44038161 chr19:44037082-44037094 chr19:44038196-44038206 chr19:44038303-44038315 chr19:44037083-44037092 chr19:44037472-44037486 chr19:44038196-44038205 chr19:44038150-44038159 chr19:44037643-44037652 chr19:44037653-44037662 chr19:44037644-44037653 chr19:44038079-44038088 chr19:44037643-44037653 chr19:44037082-44037094 chr19:44037088-44037100 chr19:44038197-44038206 chr19:44037652-44037664 chr19:44038100-44038112 chr19:44038149-44038161 chr19:44038195-44038207
41	POLR2A	chr19:44036682-44038474	GM18951	blood:	n/a	n/a
42	BHLHE40	chr19:44036786-44037694	GM12878	blood:	n/a	chr19:44037302-44037318
43	SIN3AK20	chr19:44037074-44037751	SK-N-SH	brain:	n/a	n/a
44	ELF1	chr19:44036458-44038073	A549	lung:	n/a	chr19:44037303-44037315 chr19:44037635-44037644 chr19:44037083-44037095
45	CEBPB	chr19:44036754-44038423	A549	lung:	n/a	n/a
46	TBP	chr19:44036924-44037515	GM12878	blood:	n/a	n/a
47	MAX	chr19:44036781-44038443	NB4	blood:	n/a	chr19:44038079-44038089 chr19:44037089-44037099
48	POLR2A	chr19:44036874-44037817	Gliobla	brain:	n/a	n/a
49	STAT3	chr19:44037060-44037507	MCF10A-Er-Src	breast:	n/a	n/a
50	CBX3	chr19:44037097-44037694	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44037103-44037153	U87	brain:	n/a
2	chr19:44037103-44037153	T-47D	breast:	n/a
3	chr19:44037103-44037153	HIPEpiC	eye:	n/a
4	chr19:44037103-44037153	ProgFib	skin:	n/a
5	chr19:44037103-44037153	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:44037103-44037153	MCF10A-Er-Src	breast:	n/a
7	chr19:44037103-44037153	LNCaP	prostate:	n/a
8	chr19:44037103-44037153	IMR90	lung:	fetal
9	chr19:44037103-44037153	NH-A	brain:	n/a
10	chr19:44037103-44037153	NHDF-neo	bronchial:	n/a
11	chr19:44037103-44037153	AoSMC	blood vessel:	n/a
12	chr19:44037103-44037153	A549	lung:	n/a
13	chr19:44037103-44037153	HRE	kidney:	n/a
14	chr19:44037103-44037153	AG04450	lung:	fetal
15	chr19:44037103-44037153	AG09309	skin:	n/a
16	chr19:44037103-44037153	ECC-1	luminal epithelium:	n/a
17	chr19:44037103-44037153	K562	blood:	n/a
18	chr19:44037103-44037153	AG09319	gingival:	n/a
19	chr19:44037103-44037153	SK-N-SH_RA	brain:	n/a
20	chr19:44037103-44037153	HCPEpiC	choroid plexus:	n/a
21	chr19:44037103-44037153	Jurkat	blood:	n/a
22	chr19:44037103-44037153	Hela-S3	cervix:	n/a
23	chr19:44037103-44037153	MCF-7	breast:	n/a
24	chr19:44037103-44037153	Caco-2	colon:	n/a
25	chr19:44037103-44037153	PFSK-1	brain:	n/a
26	chr19:44037103-44037153	HRCEpiC	kidney:	n/a
27	chr19:44037103-44037153	NB4	blood:	n/a
28	chr19:44037103-44037153	HAEpiC	amniotic membrane:	n/a
29	chr19:44037103-44037153	HNPCEpiC	eye:	n/a
30	chr19:44037103-44037153	SKMC	muscle:	n/a
31	chr19:44037103-44037153	H1-hESC	embryonic stem cell:	embryo
32	chr19:44037103-44037153	HepG2	liver:	n/a
33	chr19:44037103-44037153	PrEC	prostate:	n/a
34	chr19:44037103-44037153	HCF	heart:	n/a
35	chr19:44037103-44037153	HRPEpiC	eye:	n/a
36	chr19:44037103-44037153	GM12891	blood:	n/a
37	chr19:44037103-44037153	BE2_C	brain:	n/a
38	chr19:44037103-44037153	HEEpiC	esophagus:	n/a
39	chr19:44037103-44037153	SK-N-SH	brain:	n/a
40	chr19:44037103-44037153	CMK	blood:	n/a
41	chr19:44037103-44037153	GM12878	blood:	n/a
42	chr19:44037103-44037153	ovcar-3	ovarian:	n/a
43	chr19:44037103-44037153	SK-N-MC	brain:	n/a
44	chr19:44037103-44037153	AG10803	skin:	n/a
45	chr19:44037103-44037153	HEK293	kidney:	embryo
46	chr19:44037103-44037153	GM19239	blood:	n/a
47	chr19:44037103-44037153	HUVEC	blood vessel:	n/a
48	chr19:44037103-44037153	HMEC	breast:	n/a
49	chr19:44037103-44037153	NHBE	bronchial:	n/a
50	chr19:44037103-44037153	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44036740..44039638-chr19:44122133..44124023,3	MCF-7	breast:
2	chr19:43967717..43971076-chr19:44036987..44039699,3	MCF-7	breast:
3	chr19:44036787..44038928-chr19:44171420..44173895,2	K562	blood:
4	chr19:44036203..44038928-chr19:44171420..44174647,3	K562	blood:
5	chr19:44007568..44009583-chr19:44036201..44039639,3	MCF-7	breast:
6	chr19:44035923..44038107-chr19:44078243..44080720,2	MCF-7	breast:
7	chr19:44036629..44040127-chr19:44122528..44124622,4	K562	blood:
8	chr19:44036185..44038265-chr19:44078295..44081409,3	K562	blood:
9	chr19:44036790..44040633-chr19:44098075..44102401,5	K562	blood:
10	chr19:44036790..44039764-chr19:44099068..44102401,4	K562	blood:
11	chr19:44036736..44038487-chr19:44172015..44174560,2	MCF-7	breast:
12	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:
13	chr19:44036786..44040035-chr19:44171480..44174677,5	MCF-7	breast:
14	chr19:44029421..44031405-chr19:44036593..44038198,2	K562	blood:

Variant related genes	Relation type
ZNF575	TF binding region
ZNF575	CpG island
ENSG00000105755	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000176531	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000124466	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000234465	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11083710	1.00[EUR][1000 genomes]
rs55908340	1.00[EUR][1000 genomes]
rs56284822	1.00[EUR][1000 genomes]
rs56296628	1.00[EUR][1000 genomes]
rs59051447	1.00[EUR][1000 genomes]
rs61732260	1.00[EUR][1000 genomes]
rs73935005	1.00[EUR][1000 genomes]
rs73937413	1.00[EUR][1000 genomes]
rs73937427	1.00[EUR][1000 genomes]
rs73937428	1.00[EUR][1000 genomes]
rs9653099	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44036200-44038200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr19:44036400-44037200	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr19:44036400-44037200	Flanking Active TSS	A549	lung
4	chr19:44036400-44037200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr19:44036400-44038000	Flanking Active TSS	Colonic Mucosa	Colon
6	chr19:44036400-44038000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr19:44036400-44038200	Flanking Active TSS	Liver	Liver
8	chr19:44036400-44038400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:44036400-44038400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:44036400-44038600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:44036400-44038600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:44036400-44038800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:44036400-44038800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:44036400-44039000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:44036400-44039000	Active TSS	Brain Angular Gyrus	brain
16	chr19:44036600-44037200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:44036600-44037200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:44036600-44037200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:44036600-44037200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:44036600-44037200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr19:44036600-44037200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:44036600-44037200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr19:44036600-44037200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:44036600-44037200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:44036600-44037200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr19:44036600-44037200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:44036600-44037200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr19:44036600-44037200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:44036600-44037200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr19:44036600-44037200	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr19:44036600-44037200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr19:44036600-44037200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr19:44036600-44037200	Flanking Active TSS	Fetal Brain Female	brain
34	chr19:44036600-44037200	Flanking Active TSS	Fetal Lung	lung
35	chr19:44036600-44037200	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr19:44036600-44037200	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr19:44036600-44037200	Flanking Active TSS	Stomach Mucosa	stomach
38	chr19:44036600-44037200	Flanking Active TSS	Thymus	Thymus
39	chr19:44036600-44037200	Flanking Active TSS	NH-A	brain
40	chr19:44036600-44037200	Flanking Active TSS	Osteobl	bone
41	chr19:44036600-44037400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr19:44036600-44037400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:44036600-44037400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr19:44036600-44037400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:44036600-44037400	Active TSS	Esophagus	oesophagus
46	chr19:44036600-44037400	Flanking Active TSS	Fetal Thymus	thymus
47	chr19:44036600-44037400	Active TSS	Right Ventricle	heart
48	chr19:44036600-44037400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr19:44036600-44037400	Flanking Active TSS	Hela-S3	cervix
50	chr19:44036600-44037600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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