Variant report

Variant	rs7136004
Chromosome Location	chr12:118841553-118841554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1013641	0.85[EUR][1000 genomes]
rs1092854	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1151901	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs1277175	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs1503770	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17625679	0.83[EUR][1000 genomes]
rs1971322	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2062522	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34365267	0.85[EUR][1000 genomes]
rs353887	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs364823	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs404566	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs418941	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs4304821	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4366521	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs461499	0.81[JPT][hapmap]
rs484838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs492939	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs503548	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs519480	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs523011	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs55957752	0.88[EUR][1000 genomes]
rs571113	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs575121	0.96[CHB][hapmap];0.94[JPT][hapmap]
rs58833755	0.85[EUR][1000 genomes]
rs60840022	0.83[EUR][1000 genomes]
rs7307953	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7316527	0.86[EUR][1000 genomes]
rs7795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793596	0.81[ASN][1000 genomes]
rs7952833	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966814	0.85[EUR][1000 genomes]
rs7970613	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974630	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7980279	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs955134	0.87[EUR][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118815800-118855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:118816400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:118816400-118855400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:118816800-118841600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr12:118816800-118844400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:118816800-118855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:118816800-118855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:118816800-118855400	Strong transcription	Primary T cells from cord blood	blood
11	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
12	chr12:118817000-118845600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:118817000-118846000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:118817200-118841800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:118817200-118841800	Strong transcription	Fetal Brain Female	brain
18	chr12:118817200-118841800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:118817200-118842600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:118817200-118845600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:118817200-118845800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:118817200-118848800	Strong transcription	Dnd41	blood
23	chr12:118817200-118850400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:118817200-118854400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:118817200-118854800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:118817200-118855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
29	chr12:118817400-118841800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:118817400-118842000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:118817400-118842400	Strong transcription	Thymus	Thymus
32	chr12:118817400-118845200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:118817400-118845400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:118817400-118849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:118817400-118855000	Strong transcription	Liver	Liver
36	chr12:118817400-118855200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:118817400-118855400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:118817600-118845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:118819400-118852000	Strong transcription	Primary B cells from cord blood	blood
40	chr12:118822000-118856200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:118822600-118842200	Strong transcription	Spleen	Spleen
42	chr12:118823200-118842200	Strong transcription	Ovary	ovary
43	chr12:118823400-118841800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:118823400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:118825400-118847200	Weak transcription	Stomach Mucosa	stomach
46	chr12:118827200-118842000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:118827800-118841600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:118827800-118848000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
50	chr12:118830600-118848800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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