Variant report

Variant	rs375690310
Chromosome Location	chr19:18976154-18976155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
2	chr19:18951537..18953798-chr19:18974374..18976491,2	K562	blood:
3	chr19:18974657..18976730-chr19:18979703..18982678,3	MCF-7	breast:
4	chr19:18971565..18973286-chr19:18974759..18978093,5	MCF-7	breast:
5	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005007	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18951800-18977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18953200-18977600	Weak transcription	Fetal Heart	heart
3	chr19:18954800-18979800	Strong transcription	Dnd41	blood
4	chr19:18956200-18978400	Strong transcription	Thymus	Thymus
5	chr19:18958200-18977000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:18958400-18977600	Strong transcription	Fetal Intestine Large	intestine
7	chr19:18958400-18979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
11	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:18958600-18976200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:18958600-18979000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
20	chr19:18959000-18979000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18959000-18979000	Strong transcription	Gastric	stomach
22	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:18959800-18978800	Strong transcription	Fetal Brain Female	brain
24	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr19:18960400-18977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:18960400-18978600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:18960400-18978800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
29	chr19:18960600-18977000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr19:18960600-18979000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:18961000-18979200	Strong transcription	Osteobl	bone
39	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
45	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:18961600-18979800	Strong transcription	NHLF	lung
48	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
49	chr19:18961800-18979000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial

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