Variant report

Variant	rs170758
Chromosome Location	chr19:36243089-36243090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36242919-36243133	IMR90	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36239415..36241356-chr19:36242820..36244877,2	MCF-7	breast:
2	chr19:36207946..36209485-chr19:36241921..36244354,2	MCF-7	breast:
3	chr19:36242461..36245033-chr19:36262811..36266302,4	K562	blood:
4	chr19:36238866..36244880-chr19:36246037..36252437,21	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPB6-1	chr19:36242862-36244316	ENSG00000247203
2	lnc-HSPB6-1	chr19:36242862-36244316	ENSG00000267439.1

No data

Variant related genes	Relation type
ENSG00000267328	TF binding region
LIN37	TF binding region
ENSG00000267439	TF binding region
ENSG00000167595	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000267796	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10402798	1.00[CHD][hapmap]
rs11667254	1.00[JPT][hapmap]
rs11878548	1.00[CHD][hapmap]
rs2301596	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2311871	1.00[JPT][hapmap]
rs34234254	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs34494265	1.00[CHD][hapmap]
rs34835607	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs35617825	1.00[CHD][hapmap]
rs4805135	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36240000-36246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:36240200-36243400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:36240200-36243800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:36240200-36244600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:36240200-36246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:36240400-36243200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:36240400-36243200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:36240400-36243200	Weak transcription	Brain Substantia Nigra	brain
9	chr19:36240400-36243200	Weak transcription	Ovary	ovary
10	chr19:36240400-36243200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:36240400-36243200	Weak transcription	Stomach Mucosa	stomach
12	chr19:36240400-36243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:36240400-36243600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:36240400-36244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:36240400-36244200	Weak transcription	Fetal Kidney	kidney
16	chr19:36240400-36245000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:36240400-36246200	Weak transcription	NH-A	brain
18	chr19:36240400-36246400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:36240400-36247200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:36240600-36243400	Weak transcription	Fetal Thymus	thymus
21	chr19:36241000-36243200	Weak transcription	HSMMtube	muscle
22	chr19:36241000-36243400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:36241000-36243400	Weak transcription	HSMM	muscle
24	chr19:36241000-36243800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:36241000-36244600	Weak transcription	Primary B cells from cord blood	blood
26	chr19:36241000-36244600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:36241000-36244600	Weak transcription	K562	blood
28	chr19:36241000-36245400	Weak transcription	Right Atrium	heart
29	chr19:36241000-36245600	Weak transcription	Fetal Heart	heart
30	chr19:36241000-36245800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:36241000-36245800	Strong transcription	Fetal Intestine Small	intestine
32	chr19:36241000-36246000	Weak transcription	Small Intestine	intestine
33	chr19:36241000-36246200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:36241000-36246200	Weak transcription	HUVEC	blood vessel
35	chr19:36241000-36247600	Weak transcription	HMEC	breast
36	chr19:36241200-36243200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:36241200-36243200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:36241200-36243200	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:36241200-36243200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:36241200-36243200	Weak transcription	NHDF-Ad	bronchial
41	chr19:36241200-36243400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:36241200-36243400	Weak transcription	Psoas Muscle	Psoas
43	chr19:36241200-36243800	Weak transcription	Fetal Lung	lung
44	chr19:36241200-36244000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:36241200-36244000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:36241200-36245000	Strong transcription	Fetal Stomach	stomach
47	chr19:36241200-36245800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:36241200-36247800	Weak transcription	Hela-S3	cervix
49	chr19:36241400-36243400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:36241400-36243400	Weak transcription	Brain Angular Gyrus	brain

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