Variant report

Variant	rs56170974
Chromosome Location	chr1:226085362-226085363
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226076187..226078341-chr1:226083118..226085754,2	K562	blood:
2	chr1:226069006..226071944-chr1:226083311..226087212,4	MCF-7	breast:
3	chr1:226067224..226072522-chr1:226081850..226086228,5	K562	blood:
4	chr1:226073359..226078692-chr1:226082383..226086507,6	MCF-7	breast:
5	chr1:226064389..226066777-chr1:226084664..226086775,2	MCF-7	breast:
6	chr1:226082392..226086570-chr1:226107502..226111171,5	MCF-7	breast:
7	chr1:226080997..226083226-chr1:226084406..226086533,2	K562	blood:
8	chr1:226084737..226087614-chr1:226108761..226113097,5	K562	blood:
9	chr1:226084282..226085817-chr1:226093529..226096512,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243709	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1219670	1.00[ASN][1000 genomes]
rs1219672	1.00[ASN][1000 genomes]
rs1877159	1.00[ASN][1000 genomes]
rs41268727	1.00[ASN][1000 genomes]
rs4278344	1.00[ASN][1000 genomes]
rs55772908	1.00[ASN][1000 genomes]
rs56113429	1.00[ASN][1000 genomes]
rs72757016	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv3369235	chr1:226075748-226127738	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
2	chr1:226078800-226086800	Weak transcription	Fetal Stomach	stomach
3	chr1:226079200-226085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:226082000-226085600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:226083400-226087000	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:226083600-226087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:226083800-226085600	Enhancers	Liver	Liver
8	chr1:226083800-226087600	Enhancers	Fetal Thymus	thymus
9	chr1:226084000-226086000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:226084000-226086800	Weak transcription	Gastric	stomach
11	chr1:226084000-226087600	Enhancers	Thymus	Thymus
12	chr1:226084200-226086000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr1:226084200-226086600	Enhancers	Stomach Mucosa	stomach
14	chr1:226084200-226087800	Enhancers	K562	blood
15	chr1:226084400-226085400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:226084400-226085400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:226084400-226085400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:226084400-226085400	Enhancers	NHEK	skin
19	chr1:226084400-226085800	Enhancers	HMEC	breast
20	chr1:226084400-226086400	Enhancers	Dnd41	blood
21	chr1:226084400-226086600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:226084400-226087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:226084400-226088800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:226084600-226085400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr1:226084600-226085400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:226084600-226085400	Enhancers	Small Intestine	intestine
27	chr1:226084600-226085400	Flanking Active TSS	HepG2	liver
28	chr1:226084600-226086000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:226084600-226086000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:226084600-226086400	Enhancers	Colonic Mucosa	Colon
31	chr1:226084600-226086400	Weak transcription	Lung	lung
32	chr1:226084600-226086400	Enhancers	Pancreas	Pancrea
33	chr1:226084600-226086800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:226084600-226086800	Enhancers	Fetal Intestine Large	intestine
35	chr1:226084600-226087000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:226084600-226087000	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:226084600-226087400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:226084800-226085400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:226084800-226085400	Enhancers	Esophagus	oesophagus
40	chr1:226084800-226085600	Enhancers	Fetal Intestine Small	intestine
41	chr1:226084800-226087600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:226084800-226088000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:226084800-226088600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:226084800-226098800	Weak transcription	Brain Substantia Nigra	brain
45	chr1:226085000-226085400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:226085000-226085600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:226085000-226085600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:226085000-226085800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:226085000-226085800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:226085000-226085800	Weak transcription	A549	lung

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