Variant report

Variant	rs73348178
Chromosome Location	chr8:126163974-126163975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126163871..126166452-chr8:126194576..126197466,2	K562	blood:
2	chr8:126162166..126164935-chr8:126168920..126171505,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs59249754	1.00[AFR][1000 genomes]
rs59804104	1.00[AFR][1000 genomes]
rs73348119	1.00[AFR][1000 genomes]
rs73348163	1.00[AFR][1000 genomes]
rs73348183	1.00[AFR][1000 genomes]
rs73348195	1.00[AFR][1000 genomes]
rs73348196	1.00[AFR][1000 genomes]
rs73348200	1.00[AFR][1000 genomes]
rs73349807	1.00[AFR][1000 genomes]
rs73349877	1.00[AFR][1000 genomes]
rs73349896	1.00[AFR][1000 genomes]
rs73351251	1.00[AFR][1000 genomes]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
10	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
12	chr8:126144600-126168000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:126154400-126166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:126155800-126175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:126156600-126185400	Weak transcription	Lung	lung
18	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:126156800-126164000	Weak transcription	K562	blood
20	chr8:126156800-126172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:126157000-126170400	Weak transcription	Fetal Thymus	thymus
22	chr8:126157000-126172400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:126157200-126164000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:126157200-126172400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:126157600-126172400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:126157600-126172400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:126157800-126165200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:126157800-126167000	Weak transcription	Liver	Liver
30	chr8:126158200-126170600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:126158600-126164000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:126158600-126164000	Weak transcription	Primary T cells from cord blood	blood
34	chr8:126158600-126164000	Weak transcription	Fetal Intestine Small	intestine
35	chr8:126158600-126164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:126158600-126172600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:126158600-126173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:126158600-126180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:126158600-126185400	Weak transcription	Placenta	Placenta
40	chr8:126158800-126164400	Weak transcription	Primary B cells from cord blood	blood
41	chr8:126160200-126164800	Enhancers	A549	lung
42	chr8:126160600-126179000	Weak transcription	Spleen	Spleen
43	chr8:126160600-126180400	Weak transcription	HUVEC	blood vessel
44	chr8:126160600-126181800	Weak transcription	Right Atrium	heart
45	chr8:126160600-126185400	Weak transcription	Aorta	Aorta
46	chr8:126160600-126187400	Weak transcription	Gastric	stomach
47	chr8:126160800-126164200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:126161000-126164200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:126161200-126164600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:126161400-126175800	Weak transcription	HepG2	liver

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