Variant report

Variant	rs1023694
Chromosome Location	chr8:125611855-125611856
allele	C/T
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	chr8:125610290..125612070-chr8:125937956..125940541,2	MCF-7	breast:
2	chr8:125607603..125609635-chr8:125611568..125614281,2	MCF-7	breast:
3	chr8:125609071..125612556-chr8:125615058..125616813,3	K562	blood:
4	chr8:125609951..125612299-chr8:125732726..125735417,2	MCF-7	breast:
5	chr8:125607033..125612930-chr8:125826274..125829090,6	K562	blood:
6	chr8:125607333..125608980-chr8:125610302..125612712,2	K562	blood:
7	chr8:125611688..125614263-chr8:125617134..125618920,2	K562	blood:
8	chr8:125609791..125612483-chr8:125613273..125615054,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16893079	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs16899847	0.89[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899867	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs16899868	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs16899870	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs16899873	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs16899876	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs1978662	0.87[CHB][hapmap]
rs3750231	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes]
rs3892558	0.89[CHB][hapmap]
rs7816697	0.83[CHB][hapmap]
rs919543	1.00[CEU][hapmap]
rs919547	0.85[AMR][1000 genomes]
rs934323	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes]

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
2	chr8:125596200-125616400	Weak transcription	HSMMtube	muscle
3	chr8:125602000-125620400	Weak transcription	HMEC	breast
4	chr8:125603000-125616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:125603400-125612000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:125603400-125612600	Weak transcription	NHLF	lung
7	chr8:125603400-125612800	Weak transcription	Gastric	stomach
8	chr8:125603400-125617000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:125603400-125617400	Weak transcription	Esophagus	oesophagus
10	chr8:125603400-125625800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:125603600-125612000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:125605000-125613800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:125605000-125614200	Enhancers	Placenta	Placenta
14	chr8:125605000-125615800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:125605800-125617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:125606000-125612800	Weak transcription	HepG2	liver
17	chr8:125606000-125617200	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:125606400-125617000	Weak transcription	Pancreas	Pancrea
19	chr8:125606600-125617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:125607200-125612000	Weak transcription	Fetal Lung	lung
21	chr8:125607400-125612800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:125607400-125615600	Weak transcription	Small Intestine	intestine
23	chr8:125607400-125617000	Enhancers	Fetal Thymus	thymus
24	chr8:125607600-125613800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:125607600-125617000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:125608000-125616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:125608200-125612800	Weak transcription	Right Ventricle	heart
28	chr8:125608200-125615800	Weak transcription	Psoas Muscle	Psoas
29	chr8:125608200-125616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:125608400-125612800	Weak transcription	HUVEC	blood vessel
31	chr8:125609000-125613000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:125609000-125615600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:125609000-125615800	Weak transcription	Primary T cells from cord blood	blood
34	chr8:125609000-125615800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:125609200-125616000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:125609200-125618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:125609400-125613000	Weak transcription	Fetal Stomach	stomach
38	chr8:125609400-125617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:125609800-125612000	Weak transcription	Lung	lung
40	chr8:125609800-125615200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:125610000-125612000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:125610000-125613600	Enhancers	Brain Anterior Caudate	brain
43	chr8:125610000-125616200	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:125610000-125617000	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:125610000-125617600	Weak transcription	Fetal Intestine Large	intestine
46	chr8:125610200-125612000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:125610200-125612200	Weak transcription	Fetal Brain Female	brain
48	chr8:125610200-125612800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:125610200-125613600	Enhancers	Adipose Nuclei	Adipose
50	chr8:125610200-125613600	Enhancers	Brain Angular Gyrus	brain

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