Variant report

Variant	rs11805696
Chromosome Location	chr1:10103554-10103555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10093957..10096871-chr1:10101261..10104242,3	K562	blood:
2	chr1:10001860..10004061-chr1:10101862..10104026,2	K562	blood:
3	chr1:10097989..10099903-chr1:10102348..10104516,2	K562	blood:

Variant related genes	Relation type
ENSG00000173614	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000228150	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10127541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13373975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57314761	1.00[AMR][1000 genomes]
rs57841357	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570346	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60413811	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60495933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684466	1.00[AMR][1000 genomes]
rs6702986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532028	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535103	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10094000-10104200	Weak transcription	Gastric	stomach
2	chr1:10094600-10106000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:10094800-10105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10094800-10105200	Weak transcription	Right Ventricle	heart
5	chr1:10094800-10105200	Weak transcription	Small Intestine	intestine
6	chr1:10094800-10106000	Weak transcription	Colonic Mucosa	Colon
7	chr1:10094800-10106200	Weak transcription	Stomach Mucosa	stomach
8	chr1:10094800-10119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:10095000-10104400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:10095000-10104400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:10095000-10104400	Weak transcription	Esophagus	oesophagus
12	chr1:10095000-10104600	Weak transcription	Brain Angular Gyrus	brain
13	chr1:10095000-10104600	Weak transcription	Fetal Heart	heart
14	chr1:10095000-10105200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:10095000-10105200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:10095000-10105200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:10095000-10105200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:10095000-10105200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:10095000-10105200	Weak transcription	Right Atrium	heart
20	chr1:10095000-10105400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:10095000-10105800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:10095000-10106000	Weak transcription	NHDF-Ad	bronchial
23	chr1:10095000-10106200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:10095000-10106200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:10095000-10108000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:10095000-10111400	Weak transcription	GM12878-XiMat	blood
27	chr1:10095000-10115000	Weak transcription	A549	lung
28	chr1:10095000-10115400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:10095000-10116000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:10095000-10116200	Weak transcription	HSMM	muscle
31	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:10095200-10105000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:10095200-10105200	Weak transcription	Fetal Brain Male	brain
35	chr1:10095200-10106000	Weak transcription	NHEK	skin
36	chr1:10095200-10106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:10095400-10105000	Weak transcription	Psoas Muscle	Psoas
39	chr1:10095400-10105600	Weak transcription	Aorta	Aorta
40	chr1:10095400-10115600	Weak transcription	HUVEC	blood vessel
41	chr1:10095600-10105800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:10096200-10105600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:10096400-10106000	Weak transcription	HMEC	breast
44	chr1:10096600-10105400	Strong transcription	Fetal Intestine Small	intestine
45	chr1:10096600-10105800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:10097000-10103800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:10097000-10105600	Strong transcription	Fetal Stomach	stomach
48	chr1:10098000-10105600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:10098000-10109200	Weak transcription	Dnd41	blood
50	chr1:10098200-10105200	Weak transcription	Spleen	Spleen

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