Variant report

Variant	rs10915943
Chromosome Location	chr1:226315615-226315616
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
2	chr1:226313181..226318051-chr1:226333070..226339347,8	MCF-7	breast:
3	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
4	chr1:226315099..226318031-chr1:226330803..226332605,3	MCF-7	breast:
5	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234478	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1043641	1.00[YRI][hapmap]
rs10753412	0.84[EUR][1000 genomes]
rs11811952	0.82[YRI][hapmap]
rs12402078	1.00[YRI][hapmap]
rs4369199	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs60311516	0.83[ASN][1000 genomes]
rs73083551	0.85[ASN][1000 genomes]
rs73083553	0.85[ASN][1000 genomes]
rs9662238	1.00[YRI][hapmap]
rs9725713	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310600-226319800	Weak transcription	Right Ventricle	heart
3	chr1:226310600-226322400	Weak transcription	Right Atrium	heart
4	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:226311400-226315800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:226312000-226316400	Weak transcription	Gastric	stomach
7	chr1:226312800-226321000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:226313000-226316200	Weak transcription	NHLF	lung
9	chr1:226313000-226316400	Enhancers	Stomach Mucosa	stomach
10	chr1:226313000-226323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:226313400-226322000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:226313400-226322600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:226314600-226316200	Enhancers	Fetal Thymus	thymus
14	chr1:226314600-226316400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:226314600-226316600	Enhancers	Fetal Intestine Small	intestine
16	chr1:226314600-226316800	Enhancers	Pancreas	Pancrea
17	chr1:226314600-226317000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:226314800-226316200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:226314800-226316200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr1:226314800-226316600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:226314800-226316600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:226314800-226316600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:226314800-226316800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:226314800-226316800	Enhancers	HMEC	breast
25	chr1:226314800-226317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:226315000-226315800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:226315000-226315800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:226315000-226315800	Enhancers	Thymus	Thymus
29	chr1:226315000-226316000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:226315000-226316000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr1:226315000-226316000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:226315000-226316000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:226315000-226316200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:226315000-226316200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:226315000-226316200	Flanking Active TSS	NHEK	skin
36	chr1:226315000-226316400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:226315000-226316400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:226315000-226316600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:226315000-226316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:226315000-226316600	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:226315000-226316800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:226315000-226316800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:226315000-226316800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:226315000-226317000	Enhancers	Fetal Heart	heart
45	chr1:226315000-226317000	Enhancers	Fetal Lung	lung
46	chr1:226315000-226317000	Flanking Active TSS	HepG2	liver
47	chr1:226315000-226317200	Enhancers	Placenta	Placenta
48	chr1:226315000-226317200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:226315200-226315800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:226315200-226316000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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