Variant report

Variant	rs7812493
Chromosome Location	chr8:68199220-68199221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68188786..68191469-chr8:68198991..68200511,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4634623	1.00[AMR][1000 genomes]
rs56102654	1.00[AMR][1000 genomes]
rs6983995	1.00[AMR][1000 genomes]
rs73693111	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:68165000-68202400	Weak transcription	Colonic Mucosa	Colon
6	chr8:68166400-68213600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:68172000-68210800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
9	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
10	chr8:68174200-68208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:68174200-68211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:68175000-68219400	Weak transcription	Right Ventricle	heart
13	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:68177200-68199600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:68177400-68204000	Weak transcription	NHLF	lung
16	chr8:68178800-68207000	Weak transcription	Hela-S3	cervix
17	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:68185200-68201400	Weak transcription	Fetal Intestine Small	intestine
19	chr8:68186400-68213800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:68187200-68214000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr8:68187800-68214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:68189600-68202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:68190000-68199400	Weak transcription	K562	blood
24	chr8:68190600-68202200	Weak transcription	Fetal Brain Male	brain
25	chr8:68193000-68211800	Weak transcription	Pancreas	Pancrea
26	chr8:68193000-68218400	Weak transcription	Gastric	stomach
27	chr8:68194400-68213400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:68195200-68200400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:68195200-68213000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:68195200-68213200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:68195400-68200600	Strong transcription	Placenta	Placenta
32	chr8:68195400-68213200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:68195400-68213600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:68195400-68214400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:68195600-68214000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:68195600-68214200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:68195800-68200200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:68195800-68200400	Strong transcription	HSMM	muscle
39	chr8:68195800-68212800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:68195800-68213800	Strong transcription	Dnd41	blood
41	chr8:68196000-68214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:68196000-68214200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:68196000-68214400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:68196000-68214400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:68196200-68200400	Strong transcription	Adipose Nuclei	Adipose
46	chr8:68196200-68200800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:68196200-68204800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:68196200-68204800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:68196200-68212800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:68196400-68199600	Strong transcription	Brain Germinal Matrix	brain

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