Variant report

Variant	rs112402288
Chromosome Location	chr1:226088012-226088013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226085663..226088684-chr1:226110363..226113038,3	K562	blood:
2	chr1:226086485..226088841-chr1:226103222..226105310,2	K562	blood:
3	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
4	chr1:226085929..226088515-chr1:226102380..226104167,2	MCF-7	breast:
5	chr1:226085907..226088745-chr1:226113166..226115980,2	K562	blood:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
2	chr1:226084400-226088800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:226084800-226088600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:226084800-226098800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:226085000-226098800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:226085000-226100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:226086000-226088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:226086000-226092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226086200-226098600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:226087000-226095000	Weak transcription	Gastric	stomach
11	chr1:226087000-226097400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:226087000-226098800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:226087000-226098800	Weak transcription	Right Ventricle	heart
14	chr1:226087000-226100200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:226087000-226107200	Weak transcription	Psoas Muscle	Psoas
16	chr1:226087200-226098800	Weak transcription	Spleen	Spleen
17	chr1:226087400-226093800	Weak transcription	Primary T cells from cord blood	blood
18	chr1:226087400-226098800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:226087600-226097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:226087600-226102000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:226087600-226103400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:226087600-226103600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226087600-226104600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:226087800-226088600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:226087800-226088800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:226087800-226088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:226087800-226093000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:226087800-226093200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:226087800-226093200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:226087800-226094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:226087800-226096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:226087800-226097400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:226087800-226098800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:226088000-226088400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:226088000-226088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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