Variant report

Variant	rs4624303
Chromosome Location	chr19:41120571-41120572
allele	C/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	YY1	chr19:41120447-41120657	K562	blood:	n/a	n/a
2	CHD2	chr19:41120372-41120704	K562	blood:	n/a	n/a
3	RCOR1	chr19:41120445-41121185	K562	blood:	n/a	n/a
4	MTA3	chr19:41119128-41120954	GM12878	blood:	n/a	n/a
5	ZBTB7A	chr19:41120485-41120809	K562	blood:	n/a	chr19:41120647-41120654
6	ATF2	chr19:41120309-41120893	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr19:41120361-41120839	K562	blood:	n/a	n/a
8	MAX	chr19:41119491-41120783	MCF-7	breast:	n/a	n/a
9	SP1	chr19:41120153-41121080	GM12878	blood:	n/a	chr19:41120965-41120977 chr19:41120622-41120631 chr19:41120642-41120654 chr19:41120643-41120653 chr19:41120643-41120653 chr19:41120642-41120654 chr19:41120643-41120652 chr19:41120965-41120977 chr19:41120643-41120652 chr19:41120644-41120653 chr19:41120966-41120975 chr19:41121049-41121063 chr19:41120643-41120657
10	TEAD4	chr19:41120095-41120824	K562	blood:	n/a	n/a
11	ELF1	chr19:41120436-41121125	K562	blood:	n/a	n/a
12	POLR2A	chr19:41118763-41120672	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr19:41120438-41120822	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr19:41120285-41121224	K562	blood:	n/a	chr19:41120965-41120977 chr19:41120622-41120631 chr19:41120642-41120654 chr19:41120643-41120653 chr19:41120643-41120653 chr19:41120642-41120654 chr19:41120643-41120652 chr19:41120965-41120977 chr19:41120643-41120652 chr19:41120644-41120653 chr19:41120966-41120975 chr19:41121049-41121063 chr19:41120643-41120657
15	MAZ	chr19:41119378-41121483	IMR90	lung:	n/a	chr19:41121193-41121202 chr19:41121098-41121108
16	CTCF	chr19:41120500-41120650	NHDF-neo	bronchial:	n/a	n/a
17	SMC3	chr19:41120443-41120643	K562	blood:	n/a	n/a
18	YY1	chr19:41120442-41120751	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP1	chr19:41120389-41120699	K562	blood:	n/a	chr19:41120622-41120631 chr19:41120642-41120654 chr19:41120643-41120653 chr19:41120643-41120653 chr19:41120642-41120654 chr19:41120643-41120652 chr19:41120643-41120652 chr19:41120644-41120653 chr19:41120643-41120657
20	RFX5	chr19:41120495-41120751	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr19:41119010-41120846	H1-hESC	embryonic stem cell:	n/a	chr19:41119191-41119204 chr19:41120571-41120582
22	MAX	chr19:41119127-41120599	ECC-1	luminal epithelium:	n/a	chr19:41119225-41119235
23	CREB1	chr19:41120445-41120882	A549	lung:	n/a	n/a
24	POLR2A	chr19:41120508-41120814	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr19:41120536-41120954	GM12878	blood:	n/a	n/a
26	GTF2F1	chr19:41120373-41120600	K562	blood:	n/a	n/a
27	MAFK	chr19:41120357-41120666	K562	blood:	n/a	n/a
28	CHD2	chr19:41120459-41120917	H1-hESC	embryonic stem cell:	n/a	n/a
29	EBF1	chr19:41120184-41120654	GM12878	blood:	n/a	chr19:41120408-41120418 chr19:41120409-41120418 chr19:41120408-41120419
30	RUNX3	chr19:41120276-41120745	GM12878	blood:	n/a	n/a
31	ZNF384	chr19:41120430-41121332	K562	blood:	n/a	n/a
32	JUND	chr19:41120439-41120701	H1-hESC	embryonic stem cell:	n/a	chr19:41120588-41120602
33	YY1	chr19:41120392-41120637	GM12891	blood:	n/a	n/a
34	BACH1	chr19:41120397-41120737	H1-hESC	embryonic stem cell:	n/a	n/a
35	SP1	chr19:41118911-41121215	H1-hESC	embryonic stem cell:	n/a	chr19:41119593-41119602 chr19:41120965-41120977 chr19:41119754-41119764 chr19:41119952-41119961 chr19:41119228-41119237 chr19:41120622-41120631 chr19:41120055-41120066 chr19:41120642-41120654 chr19:41120643-41120653 chr19:41119591-41119603 chr19:41119223-41119237 chr19:41119952-41119961 chr19:41119592-41119601 chr19:41119228-41119237 chr19:41119951-41119963 chr19:41118956-41118965 chr19:41119754-41119764 chr19:41119226-41119238 chr19:41120643-41120653 chr19:41119953-41119962 chr19:41119173-41119187 chr19:41119672-41119681 chr19:41118954-41118966 chr19:41120642-41120654 chr19:41119951-41119963 chr19:41120643-41120652 chr19:41119227-41119236 chr19:41120019-41120030 chr19:41119226-41119238 chr19:41119593-41119602 chr19:41119592-41119602 chr19:41120965-41120977 chr19:41118955-41118965 chr19:41120643-41120652 chr19:41119588-41119602 chr19:41120644-41120653 chr19:41120966-41120975 chr19:41119227-41119237 chr19:41119227-41119237 chr19:41119246-41119258 chr19:41118955-41118969 chr19:41120035-41120046 chr19:41121049-41121063 chr19:41119591-41119603 chr19:41119592-41119602 chr19:41120643-41120657
36	TBP	chr19:41120481-41120962	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr19:41120504-41121038	K562	blood:	n/a	n/a
38	CBX3	chr19:41120417-41120870	K562	blood:	n/a	n/a
39	TBL1XR1	chr19:41120541-41120752	K562	blood:	n/a	n/a
40	RCOR1	chr19:41119096-41120611	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:41119122-41120991	Raji	blood:	n/a	n/a
42	POLR2A	chr19:41120568-41121488	HUVEC	blood vessel:	n/a	n/a
43	ZEB1	chr19:41120292-41120773	GM12878	blood:	n/a	chr19:41120338-41120350
44	POLR2A	chr19:41120466-41120613	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:41118781-41120856	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr19:41120456-41121308	K562	blood:	n/a	chr19:41121191-41121202 chr19:41121104-41121113 chr19:41120588-41120602 chr19:41121101-41121110 chr19:41121098-41121107 chr19:41121103-41121112 chr19:41121097-41121106 chr19:41121102-41121111 chr19:41121100-41121109 chr19:41121191-41121203 chr19:41121106-41121115 chr19:41121006-41121015 chr19:41121193-41121201
47	POLR2A	chr19:41120439-41120977	MCF-7	breast:	n/a	n/a
48	RUNX3	chr19:41120338-41120791	GM12878	blood:	n/a	n/a
49	MAX	chr19:41120168-41121253	ECC-1	luminal epithelium:	n/a	chr19:41121193-41121202 chr19:41121098-41121108
50	HCFC1	chr19:41120461-41120971	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41118984..41122545-chr19:41130944..41134653,3	MCF-7	breast:
2	chr19:40971486..40973237-chr19:41118621..41121542,2	MCF-7	breast:
3	chr19:41120433..41122395-chr19:41149709..41152254,3	MCF-7	breast:
4	chr19:41081421..41083065-chr19:41119695..41121280,2	MCF-7	breast:
5	chr19:40970617..40972953-chr19:41119604..41121764,2	K562	blood:
6	chr19:41119264..41121274-chr19:41121495..41123120,2	MCF-7	breast:
7	chr19:41119884..41122816-chr19:41127370..41130174,2	MCF-7	breast:
8	chr19:41076913..41079410-chr19:41119355..41120987,2	K562	blood:
9	chr19:41101978..41104325-chr19:41119218..41120800,2	MCF-7	breast:
10	chr19:40789948..40791553-chr19:41119261..41121070,2	K562	blood:
11	chr19:40930456..40933734-chr19:41119113..41120830,3	K562	blood:
12	chr19:41117621..41122754-chr19:41128365..41133445,15	K562	blood:
13	chr19:40930456..40932097-chr19:41118468..41120699,2	K562	blood:

Variant related genes	Relation type
LTBP4	TF binding region
ENSG00000090013	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000197019	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11665867	1.00[ASN][1000 genomes]
rs11666504	1.00[ASN][1000 genomes]
rs11667119	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672227	1.00[ASN][1000 genomes]
rs11672651	1.00[ASN][1000 genomes]
rs2077407	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36012476	1.00[ASN][1000 genomes]
rs4435368	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55652103	1.00[ASN][1000 genomes]
rs55658896	1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55856492	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041558	1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7253575	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs7259121	1.00[ASN][1000 genomes]
rs73035918	1.00[ASN][1000 genomes]
rs73047051	1.00[ASN][1000 genomes]
rs73047068	1.00[ASN][1000 genomes]
rs73047073	1.00[ASN][1000 genomes]
rs73047085	1.00[ASN][1000 genomes]
rs73047100	1.00[ASN][1000 genomes]
rs73048915	1.00[ASN][1000 genomes]
rs73048925	1.00[ASN][1000 genomes]
rs8106578	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv870022	chr19:41113071-41178982	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41106000-41136800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41109800-41122600	Weak transcription	Aorta	Aorta
3	chr19:41116600-41137000	Weak transcription	Psoas Muscle	Psoas
4	chr19:41117000-41121800	Weak transcription	Hela-S3	cervix
5	chr19:41117000-41140200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:41117400-41125200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:41118800-41120600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:41118800-41121200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:41118800-41121400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:41119000-41120600	Active TSS	Osteobl	bone
11	chr19:41119000-41121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:41119000-41121000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:41119000-41121000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr19:41119000-41121000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr19:41119000-41121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:41119000-41121200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:41119000-41121200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:41119000-41121200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:41119000-41121200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr19:41119000-41121400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:41119000-41121400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:41119000-41121400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:41119000-41121400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:41119000-41121400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:41119200-41120600	Flanking Active TSS	Esophagus	oesophagus
26	chr19:41119200-41120600	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr19:41119200-41120600	Flanking Bivalent TSS/Enh	Placenta	Placenta
28	chr19:41119200-41120600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr19:41119200-41120800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr19:41119200-41120800	Active TSS	Brain Anterior Caudate	brain
31	chr19:41119200-41120800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr19:41119200-41120800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr19:41119200-41120800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
34	chr19:41119200-41120800	Active TSS	Small Intestine	intestine
35	chr19:41119200-41121000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr19:41119200-41121000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:41119200-41121000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:41119200-41121000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:41119200-41121000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr19:41119200-41121000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:41119200-41121000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr19:41119200-41121000	Active TSS	Left Ventricle	heart
43	chr19:41119200-41121200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr19:41119200-41121200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:41119200-41121200	Active TSS	Fetal Kidney	kidney
46	chr19:41119200-41121400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:41119200-41121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:41119200-41121400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:41119200-41121400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:41119400-41120600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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