Variant report

Variant	rs3745207
Chromosome Location	chr19:40957363-40957364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40955063..40958451-chr19:40971292..40973961,3	K562	blood:
2	chr19:40949023..40953581-chr19:40954175..40961322,7	MCF-7	breast:
3	chr19:40954900..40958159-chr19:40966581..40968618,3	K562	blood:

Variant related genes	Relation type
ENSG00000160460	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000090013	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10411133	1.00[LWK][hapmap]
rs10415304	1.00[MEX][hapmap]
rs16974220	1.00[MEX][hapmap]
rs16974365	1.00[LWK][hapmap]
rs34804421	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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	139 gene(s)	inside rSNPs	diseases
6	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv911710	chr19:40954062-40978869	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
8	nsv911711	chr19:40954062-40985003	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40951000-40970200	Weak transcription	Small Intestine	intestine
2	chr19:40951000-40970400	Weak transcription	Fetal Heart	heart
3	chr19:40951000-40970600	Weak transcription	Psoas Muscle	Psoas
4	chr19:40951000-40971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:40951200-40957600	Weak transcription	Primary T cells from cord blood	blood
6	chr19:40951200-40957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:40951200-40961200	Weak transcription	Thymus	Thymus
8	chr19:40951200-40967000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:40951200-40969000	Weak transcription	NHDF-Ad	bronchial
10	chr19:40951200-40969800	Weak transcription	Right Atrium	heart
11	chr19:40951200-40970400	Weak transcription	Brain Angular Gyrus	brain
12	chr19:40951200-40970400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:40951200-40970400	Weak transcription	HSMMtube	muscle
14	chr19:40951200-40970400	Weak transcription	NH-A	brain
15	chr19:40951200-40970600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:40951200-40970600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:40951400-40957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:40951400-40958000	Weak transcription	Dnd41	blood
19	chr19:40951600-40958200	Weak transcription	HepG2	liver
20	chr19:40951600-40967000	Strong transcription	Fetal Intestine Small	intestine
21	chr19:40952000-40958600	Strong transcription	Fetal Stomach	stomach
22	chr19:40952000-40965000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr19:40952000-40969000	Weak transcription	Osteobl	bone
24	chr19:40952000-40970000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr19:40952000-40970400	Weak transcription	NHLF	lung
26	chr19:40952200-40959200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:40952200-40959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:40952200-40959200	Weak transcription	NHEK	skin
29	chr19:40952200-40965000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr19:40952200-40970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:40952400-40959000	Weak transcription	HMEC	breast
32	chr19:40952400-40963600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:40952400-40963800	Weak transcription	Colonic Mucosa	Colon
34	chr19:40952400-40970600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:40952400-40970600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:40952600-40958000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:40952600-40959200	Weak transcription	Fetal Kidney	kidney
38	chr19:40952600-40965400	Strong transcription	Liver	Liver
39	chr19:40952600-40967000	Weak transcription	Stomach Mucosa	stomach
40	chr19:40952600-40970600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:40953400-40957400	Strong transcription	A549	lung
42	chr19:40953600-40957400	Strong transcription	Adipose Nuclei	Adipose
43	chr19:40953600-40957400	Strong transcription	Fetal Intestine Large	intestine
44	chr19:40953600-40957400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:40953600-40957600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:40953600-40957800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:40953600-40959400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:40953600-40961600	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:40953800-40957400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr19:40954200-40963200	Weak transcription	Pancreas	Pancrea

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