Variant report

Variant	rs12542820
Chromosome Location	chr8:126200196-126200197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126198558..126200941-chr8:126203635..126206340,3	K562	blood:
2	chr8:126198688..126200568-chr8:126203635..126206517,2	K562	blood:
3	chr8:126192440..126194521-chr8:126198812..126200912,2	K562	blood:
4	chr8:126199463..126202263-chr8:126440373..126443128,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10094316	0.81[CHB][hapmap]
rs10100556	0.82[CHB][hapmap]
rs10106942	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10112218	0.82[CHB][hapmap]
rs11995484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384914	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4300023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4330708	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870935	0.82[CHB][hapmap]
rs4871572	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007394	0.82[CHB][hapmap]
rs6470338	0.81[CHB][hapmap]
rs6470339	0.81[CHB][hapmap]
rs6995096	0.81[CHB][hapmap]
rs7017478	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813225	0.81[CHB][hapmap]
rs7831515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836506	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7836761	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:126166000-126200200	Weak transcription	Dnd41	blood
6	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
9	chr8:126176200-126200400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
13	chr8:126182400-126201000	Weak transcription	HepG2	liver
14	chr8:126184000-126200400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:126187600-126200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:126187600-126200400	Weak transcription	Psoas Muscle	Psoas
18	chr8:126187600-126201000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:126187800-126202400	Weak transcription	HSMM	muscle
20	chr8:126188000-126200200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:126188000-126200600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:126188000-126200800	Weak transcription	A549	lung
23	chr8:126188000-126201000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:126188200-126200600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:126188400-126200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:126188400-126200600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:126188600-126200200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:126188600-126201200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:126189000-126201200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:126189200-126200400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:126189200-126203600	Weak transcription	Small Intestine	intestine
32	chr8:126189200-126204400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:126189400-126200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:126189800-126200400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:126190000-126200400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:126190200-126201000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:126190400-126200400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:126190400-126201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:126190600-126200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:126190600-126200400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:126190600-126201000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:126191400-126200400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:126192800-126201400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:126193000-126200400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:126193800-126201000	Weak transcription	HUVEC	blood vessel
46	chr8:126194000-126200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:126194000-126200400	Weak transcription	Aorta	Aorta
48	chr8:126194000-126200600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:126194200-126201000	Weak transcription	Left Ventricle	heart
50	chr8:126194200-126201600	Weak transcription	Right Ventricle	heart

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