Variant report

Variant	rs73607040
Chromosome Location	chr19:55866094-55866095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:55865225-55866512	K562	blood:	n/a	chr19:55865945-55865954
2	HMGN3	chr19:55865133-55866194	K562	blood:	n/a	n/a
3	BACH1	chr19:55865703-55866205	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr19:55865547-55866468	ECC-1	luminal epithelium:	n/a	chr19:55865945-55865954
5	CTCF	chr19:55866060-55866210	K562	blood:	n/a	n/a
6	NFYB	chr19:55865919-55866305	K562	blood:	n/a	chr19:55866154-55866168 chr19:55866153-55866165 chr19:55866156-55866166 chr19:55866154-55866169 chr19:55866154-55866169
7	MAX	chr19:55866064-55866425	K562	blood:	n/a	n/a
8	E2F6	chr19:55866093-55866381	K562	blood:	n/a	n/a
9	ZBTB7A	chr19:55865096-55866547	ECC-1	luminal epithelium:	n/a	chr19:55865212-55865221 chr19:55865945-55865954

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55866087-55866137	HepG2	liver:	n/a
2	chr19:55866094-55866144	HEK293	kidney:	embryo
3	chr19:55866087-55866137	AG04449	skin:	fetal
4	chr19:55866094-55866144	Jurkat	blood:	n/a
5	chr19:55866087-55866137	HCF	heart:	n/a
6	chr19:55866087-55866137	GM19239	blood:	n/a
7	chr19:55866087-55866137	LNCaP	prostate:	n/a
8	chr19:55866087-55866137	HPAEpiC	pulmonary alveolar:	n/a
9	chr19:55866094-55866144	GM12892	blood:	n/a
10	chr19:55866094-55866144	PANC-1	pancreas:	n/a
11	chr19:55866087-55866137	PANC-1	pancreas:	n/a
12	chr19:55866087-55866137	Jurkat	blood:	n/a
13	chr19:55866094-55866144	MCF-7	breast:	n/a
14	chr19:55866087-55866137	AG09309	skin:	n/a
15	chr19:55866087-55866137	NH-A	brain:	n/a
16	chr19:55866087-55866137	RPTEC	kidney:	n/a
17	chr19:55866087-55866137	HL-60	blood:	n/a
18	chr19:55866094-55866144	HMEC	breast:	n/a
19	chr19:55866094-55866144	NB4	blood:	n/a
20	chr19:55866087-55866137	AG10803	skin:	n/a
21	chr19:55866094-55866144	NT2-D1	testis:	n/a
22	chr19:55866087-55866137	MCF-7	breast:	n/a
23	chr19:55866087-55866137	HRE	kidney:	n/a
24	chr19:55866094-55866144	GM12878	blood:	n/a
25	chr19:55866094-55866144	HAEpiC	amniotic membrane:	n/a
26	chr19:55866087-55866137	HAEpiC	amniotic membrane:	n/a
27	chr19:55866094-55866144	Caco-2	colon:	n/a
28	chr19:55866094-55866144	SAEC	small airway:	n/a
29	chr19:55866094-55866144	AG09319	gingival:	n/a
30	chr19:55866094-55866144	ECC-1	luminal epithelium:	n/a
31	chr19:55866087-55866137	NHBE	bronchial:	n/a
32	chr19:55866094-55866144	HIPEpiC	eye:	n/a
33	chr19:55866087-55866137	BE2_C	brain:	n/a
34	chr19:55866087-55866137	PrEC	prostate:	n/a
35	chr19:55866094-55866144	T-47D	breast:	n/a
36	chr19:55866094-55866144	A549	lung:	n/a
37	chr19:55866087-55866137	ovcar-3	ovarian:	n/a
38	chr19:55866087-55866137	HEK293	kidney:	embryo
39	chr19:55866087-55866137	PFSK-1	brain:	n/a
40	chr19:55866094-55866144	GM19239	blood:	n/a
41	chr19:55866094-55866144	ProgFib	skin:	n/a
42	chr19:55866087-55866137	AG09319	gingival:	n/a
43	chr19:55866087-55866137	T-47D	breast:	n/a
44	chr19:55866087-55866137	Hepatocyte	liver:	n/a
45	chr19:55866094-55866144	PFSK-1	brain:	n/a
46	chr19:55866087-55866137	HMEC	breast:	n/a
47	chr19:55866087-55866137	HEEpiC	esophagus:	n/a
48	chr19:55866087-55866137	NT2-D1	testis:	n/a
49	chr19:55866087-55866137	U87	brain:	n/a
50	chr19:55866087-55866137	Caco-2	colon:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55864929..55868342-chr19:55869494..55871064,3	MCF-7	breast:
2	chr19:55865530..55867437-chr19:55869222..55871050,2	K562	blood:
3	chr19:55725474..55728358-chr19:55864550..55866958,2	K562	blood:
4	chr19:55863699..55867009-chr19:55895864..55899065,4	MCF-7	breast:
5	chr19:55864955..55867658-chr19:55880222..55883231,3	MCF-7	breast:
6	chr19:55865626..55867203-chr19:55869204..55871320,2	K562	blood:
7	chr19:55864065..55867080-chr19:55895058..55897568,4	K562	blood:
8	chr19:55865908..55868131-chr19:55880960..55883611,2	MCF-7	breast:
9	chr19:55865213..55868465-chr19:55868824..55871801,4	MCF-7	breast:
10	chr19:55864307..55867114-chr19:56165229..56167152,3	K562	blood:
11	chr19:55726786..55728358-chr19:55864550..55866363,2	K562	blood:
12	chr19:55862642..55868480-chr19:55895176..55899926,10	K562	blood:
13	chr19:55865425..55868489-chr19:55917598..55920755,3	MCF-7	breast:

No data

Variant related genes	Relation type
COX6B2	TF binding region
COX6B2	CpG island
ENSG00000267649	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000267706	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000095752	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2124920	0.90[ASN][1000 genomes]
rs4252572	0.90[ASN][1000 genomes]
rs73607033	0.90[AFR][1000 genomes];0.95[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	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	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
12	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
13	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
15	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS 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 miRNA target site	196 gene(s)	inside rSNPs	diseases
16	esv3430654	chr19:55864590-55867488	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv3405241	chr19:55865165-55868013	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55864400-55866200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:55864600-55866200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
3	chr19:55864600-55866200	Enhancers	Lung	lung
4	chr19:55864600-55866400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:55864800-55866200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
6	chr19:55864800-55866200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:55864800-55866400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr19:55864800-55866800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:55865000-55866200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:55865000-55866200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:55865000-55866400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr19:55865000-55866400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:55865000-55866400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:55865200-55866200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:55865200-55866200	Bivalent/Poised TSS	A549	lung
16	chr19:55865200-55866800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:55865400-55866200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:55865400-55866200	Bivalent/Poised TSS	HepG2	liver
19	chr19:55865400-55866400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:55865400-55866400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:55865400-55867000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr19:55865600-55866200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr19:55865600-55866200	Bivalent Enhancer	Placenta	Placenta
24	chr19:55865600-55866200	Bivalent Enhancer	Fetal Thymus	thymus
25	chr19:55865600-55866200	Enhancers	Pancreas	Pancrea
26	chr19:55865600-55866200	Active TSS	Right Atrium	heart
27	chr19:55865600-55866400	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr19:55865600-55866400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:55865600-55866400	Active TSS	Right Ventricle	heart
30	chr19:55865600-55866800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr19:55865600-55867000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr19:55865600-55867000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr19:55865800-55866200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:55865800-55866200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:55865800-55866200	Bivalent Enhancer	Spleen	Spleen
36	chr19:55865800-55866400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:55865800-55866400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:55865800-55866800	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr19:55865800-55867400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:55865800-55867800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:55866000-55866200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr19:55866000-55866200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr19:55866000-55866200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:55866000-55866200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:55866000-55866200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr19:55866000-55866400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr19:55866000-55866400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr19:55866000-55866400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:55866000-55866400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:55866000-55866400	Bivalent Enhancer	Brain Germinal Matrix	brain

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