Variant report

Variant	rs2304185
Chromosome Location	chr19:40728935-40728936
allele	G/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	chr19:40727515-40729063	A549	lung:	n/a	chr19:40727956-40727974 chr19:40727962-40727971 chr19:40727959-40727969 chr19:40727951-40727972 chr19:40727957-40727973
2	MAX	chr19:40728925-40729582	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr19:40728932-40729542	H1-hESC	embryonic stem cell:	n/a	chr19:40729217-40729228 chr19:40729219-40729228
4	E2F6	chr19:40728929-40729484	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr19:40728850-40729617	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr19:40728866-40729656	ECC-1	luminal epithelium:	n/a	n/a
7	TAF1	chr19:40728928-40729514	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr19:40725106-40729998	PANC-1	pancreas:	n/a	chr19:40726153-40726161
9	POLR2A	chr19:40728894-40729792	HCT-116	colon:	n/a	n/a
10	MAX	chr19:40728814-40729667	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr19:40728923-40729584	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40476074..40478265-chr19:40727904..40730547,2	K562	blood:
2	chr19:40722262..40725312-chr19:40726429..40730380,4	MCF-7	breast:
3	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
4	chr19:40728036..40729560-chr19:40729917..40732586,2	K562	blood:

Variant related genes	Relation type
TTC9B	TF binding region
ENSG00000174521	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000105219	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16974157	0.85[MKK][hapmap]
rs28362958	0.82[AFR][1000 genomes]
rs59343080	0.80[ASN][1000 genomes]
rs59999853	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs892120	0.93[ASW][hapmap];0.91[MKK][hapmap]
rs934426	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
2	chr19:40723800-40729000	Weak transcription	Gastric	stomach
3	chr19:40724200-40729000	Weak transcription	Pancreas	Pancrea
4	chr19:40726000-40731600	Weak transcription	NHLF	lung
5	chr19:40726200-40731400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:40726200-40731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:40726200-40731600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:40726200-40731600	Weak transcription	NHDF-Ad	bronchial
9	chr19:40726400-40730600	Weak transcription	Hela-S3	cervix
10	chr19:40726400-40731600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:40726400-40731600	Weak transcription	A549	lung
12	chr19:40726400-40735200	Weak transcription	K562	blood
13	chr19:40728000-40731600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:40728200-40729000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:40728200-40729400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:40728200-40729600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr19:40728200-40729800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr19:40728600-40729200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr19:40728600-40729200	ZNF genes & repeats	Spleen	Spleen
20	chr19:40728600-40729400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:40728600-40729600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr19:40728800-40729000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr19:40728800-40729000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:40728800-40729200	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr19:40728800-40729600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
26	chr19:40728800-40729600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
27	chr19:40728800-40729800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr19:40728800-40730000	Bivalent Enhancer	Placenta	Placenta

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