Variant report

Variant	rs41307027
Chromosome Location	chr19:40739285-40739286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40736338..40739484-chr19:40789317..40792416,3	MCF-7	breast:
2	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
3	chr19:40736720..40741002-chr19:40742937..40745961,5	K562	blood:
4	chr19:40730620..40735723-chr19:40738673..40743679,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction
ENSG00000105219	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35925927	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732400-40740800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:40732600-40740400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:40732800-40740800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:40732800-40740800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40732800-40740800	Weak transcription	HMEC	breast
6	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:40733000-40740800	Weak transcription	GM12878-XiMat	blood
8	chr19:40734000-40742000	Weak transcription	Small Intestine	intestine
9	chr19:40734800-40740200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:40735000-40740800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
12	chr19:40735800-40740400	Weak transcription	Aorta	Aorta
13	chr19:40735800-40748200	Weak transcription	Psoas Muscle	Psoas
14	chr19:40736000-40739800	Weak transcription	Primary T cells from cord blood	blood
15	chr19:40736000-40740000	Weak transcription	NHEK	skin
16	chr19:40736000-40740800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:40736200-40741000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40736600-40741000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:40737200-40739400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:40737200-40740600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:40737600-40739400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:40737600-40739600	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr19:40737600-40748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:40737600-40749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:40737600-40751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:40737800-40739600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:40738000-40739400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr19:40738000-40739400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:40738000-40740000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:40738000-40740800	Weak transcription	HSMMtube	muscle
31	chr19:40738000-40742800	Weak transcription	Fetal Kidney	kidney
32	chr19:40738000-40744200	Strong transcription	Brain Anterior Caudate	brain
33	chr19:40738000-40746600	Strong transcription	Ovary	ovary
34	chr19:40738000-40747000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:40738000-40748600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:40738000-40748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:40738000-40749000	Strong transcription	Thymus	Thymus
38	chr19:40738000-40751600	Strong transcription	Dnd41	blood
39	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:40738200-40740200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:40738200-40740600	Weak transcription	HUVEC	blood vessel
42	chr19:40738200-40740800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:40738200-40740800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:40738200-40740800	Weak transcription	Osteobl	bone
45	chr19:40738200-40741000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:40738200-40741200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:40738200-40742800	Weak transcription	NH-A	brain
48	chr19:40738200-40744000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr19:40738200-40745000	Weak transcription	HSMM	muscle
50	chr19:40738200-40748200	Strong transcription	Pancreas	Pancrea

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