Variant report

Variant	rs60502595
Chromosome Location	chr19:41815921-41815922
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	JUND	chr19:41815826-41816636	K562	blood:	n/a	chr19:41816512-41816521
2	BACH1	chr19:41815839-41816573	K562	blood:	n/a	n/a
3	IRF1	chr19:41815821-41816623	K562	blood:	n/a	chr19:41816027-41816041
4	POLR2A	chr19:41815708-41816733	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:41811701-41817543	SK-N-MC	brain:	n/a	n/a
6	YY1	chr19:41815877-41816496	H1-hESC	embryonic stem cell:	n/a	chr19:41816025-41816039 chr19:41816211-41816223 chr19:41816099-41816110
7	POLR2A	chr19:41815783-41816488	HepG2	liver:	n/a	n/a
8	CTCF	chr19:41811702-41817527	A549	lung:	n/a	chr19:41814589-41814607 chr19:41814590-41814606 chr19:41814584-41814605 chr19:41814591-41814604 chr19:41814591-41814604 chr19:41813852-41813873 chr19:41813850-41813868 chr19:41814601-41814614
9	TAF7	chr19:41815854-41816687	H1-hESC	embryonic stem cell:	n/a	n/a
10	PAX5	chr19:41815907-41816292	GM12892	blood:	n/a	n/a
11	NRF1	chr19:41815848-41816763	GM12878	blood:	n/a	chr19:41816277-41816286 chr19:41816049-41816060 chr19:41816051-41816060 chr19:41816049-41816060 chr19:41816049-41816063
12	SP1	chr19:41815840-41816573	GM12878	blood:	n/a	chr19:41816027-41816039 chr19:41816027-41816039 chr19:41816006-41816013
13	NFIC	chr19:41815857-41816650	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr19:41815431-41816827	A549	lung:	n/a	n/a
15	ELF1	chr19:41815818-41816478	GM12878	blood:	n/a	chr19:41816025-41816037 chr19:41816175-41816187
16	HEY1	chr19:41815706-41816661	HepG2	liver:	n/a	chr19:41816091-41816106 chr19:41816175-41816190
17	ELF1	chr19:41815872-41816469	HepG2	liver:	n/a	chr19:41816025-41816037 chr19:41816175-41816187
18	POLR2A	chr19:41813221-41816825	GM12878	blood:	n/a	n/a
19	JUND	chr19:41815715-41816636	A549	lung:	n/a	chr19:41816512-41816521
20	POLR2A	chr19:41813405-41816912	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:41813668-41816626	GM18505	blood:	n/a	n/a
22	POLR2A	chr19:41815611-41816818	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr19:41815848-41816444	A549	lung:	n/a	n/a
24	ZNF384	chr19:41815807-41816534	K562	blood:	n/a	n/a
25	POLR2A	chr19:41814046-41816774	PBDE	blood:	n/a	n/a
26	EP300	chr19:41815854-41816800	GM12878	blood:	n/a	chr19:41816284-41816300 chr19:41816176-41816185
27	ELK1	chr19:41815796-41816536	GM12878	blood:	n/a	n/a
28	NR3C1	chr19:41815737-41816521	A549	lung:	n/a	n/a
29	EBF1	chr19:41815884-41816459	GM12878	blood:	n/a	chr19:41815996-41816005
30	POLR2A	chr19:41813712-41816830	GM12891	blood:	n/a	n/a
31	MXI1	chr19:41815854-41816574	H1-hESC	embryonic stem cell:	n/a	n/a
32	GATA3	chr19:41815790-41816534	MCF-7	breast:	n/a	chr19:41816439-41816449
33	SRF	chr19:41815858-41816634	ECC-1	luminal epithelium:	n/a	n/a
34	CHD2	chr19:41815534-41816478	K562	blood:	n/a	n/a
35	POLR2A	chr19:41815694-41816802	K562	blood:	n/a	n/a
36	YY1	chr19:41815805-41816768	A549	lung:	n/a	chr19:41816025-41816039 chr19:41816211-41816223 chr19:41816099-41816110
37	BHLHE40	chr19:41815861-41816439	HepG2	liver:	n/a	n/a
38	STAT5A	chr19:41813753-41816690	GM12878	blood:	n/a	chr19:41814315-41814323 chr19:41813977-41813985 chr19:41816016-41816024
39	POLR2A	chr19:41815749-41816576	GM18526	blood:	n/a	n/a
40	POLR2A	chr19:41809524-41818013	K562	blood:	n/a	n/a
41	POLR2A	chr19:41813354-41817333	K562	blood:	n/a	n/a
42	FOSL2	chr19:41815749-41816378	HepG2	liver:	n/a	n/a
43	MBD4	chr19:41815800-41816569	HepG2	liver:	n/a	n/a
44	TAF1	chr19:41815356-41816775	A549	lung:	n/a	n/a
45	GATA1	chr19:41815817-41816691	PBDE	blood:	n/a	chr19:41816439-41816449
46	CTCF	chr19:41815900-41816050	GM06990	blood:	n/a	n/a
47	PML	chr19:41815647-41816566	K562	blood:	n/a	chr19:41816305-41816313
48	SIN3A	chr19:41815811-41816839	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr19:41815784-41816598	HepG2	liver:	n/a	n/a
50	TAF1	chr19:41815859-41816471	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41799355..41806261-chr19:41812914..41817863,9	MCF-7	breast:
2	chr19:41808201..41810426-chr19:41812838..41816052,5	K562	blood:
3	chr19:41814451..41817514-chr19:41857748..41860161,3	K562	blood:
4	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
5	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
6	chr19:41814701..41816825-chr19:41855352..41857612,2	K562	blood:
7	chr19:41813131..41816938-chr19:41856231..41860417,4	MCF-7	breast:
8	chr19:41813982..41818537-chr19:41824784..41829010,7	MCF-7	breast:
9	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
10	chr19:41814452..41815994-chr19:41869438..41871305,2	K562	blood:
11	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
12	chr19:41814729..41817632-chr19:41858391..41861046,3	K562	blood:
13	chr19:41814514..41817967-chr19:41856512..41859507,4	MCF-7	breast:
14	chr19:41814494..41816860-chr19:41868645..41871305,2	K562	blood:

Variant related genes	Relation type
CCDC97	TF binding region
ENSG00000142046	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000142039	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10411097	0.84[AFR][1000 genomes]
rs10414801	0.84[AFR][1000 genomes]
rs10419107	0.84[AFR][1000 genomes]
rs13344123	1.00[AFR][1000 genomes]
rs13345076	0.84[AFR][1000 genomes]
rs8100690	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911769	chr19:41813676-41845801	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 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	chr19:41812800-41816000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:41813000-41816000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr19:41813200-41816000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr19:41813200-41816000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:41813400-41816000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr19:41814400-41817400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr19:41814600-41816000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr19:41814600-41816000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:41815200-41817000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:41815200-41817000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:41815200-41817000	Active TSS	Esophagus	oesophagus
12	chr19:41815200-41817000	Active TSS	Ovary	ovary
13	chr19:41815200-41817200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr19:41815200-41817200	Active TSS	Right Ventricle	heart
15	chr19:41815200-41817400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:41815200-41817600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:41815200-41817800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr19:41815400-41816600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:41815400-41816600	Active TSS	Brain Anterior Caudate	brain
20	chr19:41815400-41816600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:41815400-41816600	Active TSS	Duodenum Mucosa	Duodenum
22	chr19:41815400-41816600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:41815400-41816600	Active TSS	Lung	lung
24	chr19:41815400-41816600	Active TSS	Pancreas	Pancrea
25	chr19:41815400-41816600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:41815400-41816600	Active TSS	NH-A	brain
27	chr19:41815400-41816800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:41815400-41816800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:41815400-41816800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:41815400-41816800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:41815400-41816800	Active TSS	Colon Smooth Muscle	Colon
32	chr19:41815400-41816800	Active TSS	Left Ventricle	heart
33	chr19:41815400-41816800	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:41815400-41816800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr19:41815400-41816800	Active TSS	HMEC	breast
36	chr19:41815400-41817000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr19:41815400-41817000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:41815400-41817000	Active TSS	Aorta	Aorta
39	chr19:41815400-41817000	Active TSS	Gastric	stomach
40	chr19:41815400-41817000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:41815400-41817000	Active TSS	Psoas Muscle	Psoas
42	chr19:41815400-41817200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr19:41815400-41817200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr19:41815400-41817200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr19:41815400-41817200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:41815400-41817200	Active TSS	Right Atrium	heart
47	chr19:41815400-41817200	Active TSS	GM12878-XiMat	blood
48	chr19:41815400-41817200	Active TSS	HSMMtube	muscle
49	chr19:41815400-41817400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:41815400-41817400	Active TSS	HUES64 Cell Line	embryonic stem cell

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