Variant report

Variant	rs11102695
Chromosome Location	chr1:114437060-114437061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114434553..114437151-chr1:114470890..114472929,2	K562	blood:
2	chr1:114417906..114420931-chr1:114435786..114438695,3	MCF-7	breast:
3	chr1:114422800..114426038-chr1:114435058..114437356,3	MCF-7	breast:
4	chr1:114435789..114438418-chr1:114440934..114442549,2	MCF-7	breast:
5	chr1:114429070..114435293-chr1:114435414..114441720,10	MCF-7	breast:
6	chr1:114418607..114420693-chr1:114436996..114439745,2	K562	blood:

Variant related genes	Relation type
ENSG00000188761	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1217382	0.86[CEU][hapmap]
rs1217393	0.87[CEU][hapmap]
rs1217397	0.91[CEU][hapmap]
rs1217401	0.86[CEU][hapmap]
rs1217423	0.86[CEU][hapmap]
rs1746860	0.86[CEU][hapmap]
rs971173	0.86[CEU][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114420200-114437800	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
4	chr1:114424200-114437800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:114424600-114437800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:114424600-114438800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:114424600-114442400	Weak transcription	Psoas Muscle	Psoas
8	chr1:114425400-114437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:114427600-114437800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:114428200-114437800	Weak transcription	Lung	lung
11	chr1:114428600-114437800	Weak transcription	Esophagus	oesophagus
12	chr1:114429200-114437600	Weak transcription	HSMMtube	muscle
13	chr1:114430000-114437400	Weak transcription	Placenta	Placenta
14	chr1:114430000-114437800	Weak transcription	Colonic Mucosa	Colon
15	chr1:114430000-114437800	Weak transcription	Left Ventricle	heart
16	chr1:114430000-114437800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:114430000-114440000	Weak transcription	Pancreas	Pancrea
18	chr1:114430000-114442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:114430200-114438400	Weak transcription	Fetal Stomach	stomach
20	chr1:114430400-114437400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:114430400-114440000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:114430600-114437200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:114430600-114437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:114430600-114437200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:114430600-114437600	Weak transcription	K562	blood
26	chr1:114430800-114437200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:114430800-114437200	Weak transcription	Hela-S3	cervix
28	chr1:114430800-114437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:114430800-114437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:114430800-114437600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:114430800-114437800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:114430800-114437800	Weak transcription	NHEK	skin
33	chr1:114430800-114440200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:114431000-114438800	Weak transcription	A549	lung
35	chr1:114431800-114437200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:114431800-114437200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:114431800-114445400	Weak transcription	Stomach Mucosa	stomach
38	chr1:114432000-114438000	Weak transcription	Small Intestine	intestine
39	chr1:114433000-114437800	Weak transcription	Spleen	Spleen
40	chr1:114433600-114437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:114433600-114437600	Weak transcription	GM12878-XiMat	blood
42	chr1:114434000-114437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:114434400-114437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:114434800-114437200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:114434800-114437600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:114434800-114437800	Weak transcription	Fetal Lung	lung
47	chr1:114434800-114437800	Weak transcription	HUVEC	blood vessel
48	chr1:114434800-114440000	Weak transcription	Gastric	stomach
49	chr1:114434800-114440400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:114434800-114446200	Weak transcription	Fetal Heart	heart

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