Variant report

Variant	rs371279887
Chromosome Location	chr1:226027607-226027608
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225821970..225824548-chr1:226027169..226028727,2	K562	blood:
2	chr1:226027447..226029935-chr1:226154706..226156516,2	K562	blood:
3	chr1:226021203..226023917-chr1:226026955..226030143,3	K562	blood:
4	chr1:226025881..226027741-chr1:226105867..226108259,2	K562	blood:
5	chr1:226022223..226024431-chr1:226025111..226027659,2	MCF-7	breast:
6	chr1:225662368..225663228-chr1:226027050..226027785,2	K562	blood:
7	chr1:226025810..226027984-chr1:226031798..226033532,2	MCF-7	breast:
8	chr1:226025653..226027789-chr1:226114675..226116510,2	K562	blood:

No data

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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv945328	chr1:226015604-226031170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv1801609	chr1:226027323-226036309	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
2	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226013800-226032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine
7	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
8	chr1:226015400-226032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226015400-226033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:226015600-226033600	Weak transcription	K562	blood
11	chr1:226016000-226051000	Weak transcription	NH-A	brain
12	chr1:226016400-226033400	Strong transcription	Fetal Intestine Small	intestine
13	chr1:226016800-226033600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
15	chr1:226020400-226032000	Weak transcription	Aorta	Aorta
16	chr1:226020400-226033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:226020600-226042000	Weak transcription	Hela-S3	cervix
18	chr1:226020600-226042400	Weak transcription	HSMM	muscle
19	chr1:226020800-226033400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:226020800-226033800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:226021000-226033400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226022200-226033200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:226022200-226033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:226022400-226028000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:226022600-226028200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:226022800-226029800	Weak transcription	Fetal Thymus	thymus
27	chr1:226022800-226030000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:226022800-226033800	Weak transcription	Stomach Mucosa	stomach
29	chr1:226023000-226039600	Weak transcription	NHDF-Ad	bronchial
30	chr1:226023400-226029000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:226023600-226030000	Weak transcription	Right Atrium	heart
32	chr1:226023800-226028600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:226023800-226028600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:226023800-226028800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr1:226023800-226029800	Strong transcription	Liver	Liver
36	chr1:226023800-226035800	Weak transcription	Fetal Brain Male	brain
37	chr1:226024000-226031200	Strong transcription	Adipose Nuclei	Adipose
38	chr1:226024000-226032800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:226024400-226029200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:226024400-226030000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:226024400-226033200	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:226024600-226032600	Strong transcription	Fetal Stomach	stomach
43	chr1:226024600-226032800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:226024600-226034000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:226024800-226027800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:226024800-226028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:226024800-226028600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr1:226024800-226030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:226025000-226028000	Strong transcription	Placenta	Placenta
50	chr1:226025200-226032600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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