Variant report

Variant	rs530829387
Chromosome Location	chr19:18977560-18977561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
2	chr19:18976763..18977741-chr19:19007184..19008142,2	MCF-7	breast:
3	chr19:18963646..18965570-chr19:18977086..18979214,2	K562	blood:
4	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
5	chr19:18977021..18977863-chr19:19051957..19052867,2	MCF-7	breast:
6	chr19:18705056..18705581-chr19:18976858..18977563,2	MCF-7	breast:
7	chr19:18976765..18981353-chr19:18988726..18992565,5	K562	blood:
8	chr19:18971565..18973286-chr19:18974759..18978093,5	MCF-7	breast:
9	chr19:18977248..18977957-chr19:19026218..19027076,2	MCF-7	breast:
10	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
11	chr19:18977071..18977951-chr19:19051666..19052520,2	K562	blood:
12	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
13	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
14	chr19:18882176..18882866-chr19:18977411..18977945,2	MCF-7	breast:
15	chr19:18977096..18978227-chr19:19097259..19098244,6	K562	blood:
16	chr19:18977079..18977984-chr19:19097300..19098157,3	MCF-7	breast:
17	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
18	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000269694	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv828474	chr19:18975942-18978783	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv828477	chr19:18977150-18977683	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3338528	chr19:18977552-18981950	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18953200-18977600	Weak transcription	Fetal Heart	heart
2	chr19:18954800-18979800	Strong transcription	Dnd41	blood
3	chr19:18956200-18978400	Strong transcription	Thymus	Thymus
4	chr19:18958400-18977600	Strong transcription	Fetal Intestine Large	intestine
5	chr19:18958400-18979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
9	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18958600-18979000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
17	chr19:18959000-18979000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:18959000-18979000	Strong transcription	Gastric	stomach
19	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:18959800-18978800	Strong transcription	Fetal Brain Female	brain
21	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:18960400-18977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:18960400-18978600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:18960400-18978800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
26	chr19:18960600-18979000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18961000-18979200	Strong transcription	Osteobl	bone
35	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
41	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:18961600-18979800	Strong transcription	NHLF	lung
44	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
45	chr19:18961800-18979000	Strong transcription	Rectal Smooth Muscle	rectum
46	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial
47	chr19:18962200-18979000	Strong transcription	Colon Smooth Muscle	Colon
48	chr19:18962200-18979000	Strong transcription	NHEK	skin
49	chr19:18962200-18979600	Weak transcription	Right Atrium	heart
50	chr19:18962200-18979800	Strong transcription	Colonic Mucosa	Colon

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