Variant report

Variant	rs56035614
Chromosome Location	chr1:226108096-226108097
allele	C/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	chr1:226025881..226027741-chr1:226105867..226108259,2	K562	blood:
2	chr1:226106901..226109503-chr1:226300176..226301873,2	K562	blood:
3	chr1:226097429..226099250-chr1:226107461..226109744,3	MCF-7	breast:
4	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
5	chr1:226092808..226094499-chr1:226106559..226108210,2	MCF-7	breast:
6	chr1:226106739..226108269-chr1:226135055..226137378,2	K562	blood:
7	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
8	chr1:226068298..226071251-chr1:226106254..226108786,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243709	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10915895	0.89[AMR][1000 genomes]
rs10915902	0.81[AMR][1000 genomes]
rs10915903	0.81[AMR][1000 genomes]
rs12071072	0.83[AFR][1000 genomes]
rs12071104	0.83[AFR][1000 genomes]
rs12078868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080725	0.89[AMR][1000 genomes]
rs12092868	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094548	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35273824	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35684337	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6700642	0.81[AMR][1000 genomes]
rs74150558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74150559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74150561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv535314	chr1:226087226-226128261	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr1:226099200-226109000	Weak transcription	Colonic Mucosa	Colon
2	chr1:226099400-226109800	Weak transcription	Stomach Mucosa	stomach
3	chr1:226099800-226108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226100400-226110400	Weak transcription	Small Intestine	intestine
5	chr1:226101400-226109000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:226101600-226110400	Strong transcription	Fetal Intestine Small	intestine
7	chr1:226102800-226111000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:226103400-226110200	Strong transcription	Thymus	Thymus
9	chr1:226103600-226110000	Strong transcription	Fetal Intestine Large	intestine
10	chr1:226103600-226111200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:226104000-226108800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:226104400-226109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:226104400-226109800	Strong transcription	Fetal Thymus	thymus
14	chr1:226104600-226109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:226104600-226109800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:226104600-226110200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:226104600-226110400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:226104600-226110800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr1:226104800-226110400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:226105000-226108800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:226105000-226108800	Weak transcription	Gastric	stomach
22	chr1:226105000-226109200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:226105000-226110000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:226105200-226110400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:226105400-226110400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:226105400-226110600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:226105600-226109400	Strong transcription	Fetal Brain Female	brain
28	chr1:226105800-226110000	Strong transcription	A549	lung
29	chr1:226105800-226110200	Strong transcription	HepG2	liver
30	chr1:226106000-226108200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:226106000-226109400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:226106000-226110000	Weak transcription	Hela-S3	cervix
33	chr1:226106000-226110400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:226106000-226110600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:226106000-226111000	Weak transcription	HSMMtube	muscle
36	chr1:226106200-226108400	Weak transcription	Fetal Kidney	kidney
37	chr1:226106200-226108400	Strong transcription	K562	blood
38	chr1:226106200-226111200	Weak transcription	Aorta	Aorta
39	chr1:226106400-226109200	Enhancers	Brain Substantia Nigra	brain
40	chr1:226106600-226109200	Genic enhancers	Dnd41	blood
41	chr1:226106600-226110400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:226106800-226108800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:226106800-226109600	Genic enhancers	NHEK	skin
44	chr1:226106800-226110600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:226107000-226110000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:226107200-226108200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:226107200-226108200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:226107200-226108200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:226107200-226108200	Enhancers	Colon Smooth Muscle	Colon
50	chr1:226107200-226108200	Enhancers	Duodenum Smooth Muscle	Duodenum

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