Variant report

Variant	rs12203648
Chromosome Location	chr6:161441061-161441062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:161440595-161441866	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161436912..161442437-chr6:161442557..161447430,8	K562	blood:
2	chr6:161422584..161426203-chr6:161439783..161443132,3	K562	blood:
3	chr6:161423960..161426203-chr6:161439783..161441773,2	K562	blood:
4	chr6:161437396..161442216-chr6:161443214..161447572,9	K562	blood:
5	chr6:161411206..161413315-chr6:161440386..161442626,2	MCF-7	breast:
6	chr6:161439053..161441758-chr6:161448049..161449649,2	K562	blood:
7	chr6:161426568..161429314-chr6:161439538..161442879,3	K562	blood:

No data

Variant related genes	Relation type
MAP3K4	TF binding region
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1001808	0.82[AFR][1000 genomes]
rs13200744	0.84[CHB][hapmap]
rs1562027	0.94[CEU][hapmap];0.84[CHB][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1822520	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35894036	0.84[ASN][1000 genomes]
rs3734461	0.89[CHB][hapmap]
rs3757021	0.85[CEU][hapmap];0.87[GIH][hapmap]
rs4324757	0.83[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4709485	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4709488	0.90[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs588284	0.84[ASN][1000 genomes]
rs589238	0.94[CHB][hapmap];0.88[ASN][1000 genomes]
rs590988	0.90[CHB][hapmap]
rs593184	0.84[ASN][1000 genomes]
rs594555	0.94[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs594602	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs602837	0.94[ASW][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap]
rs619831	0.85[ASN][1000 genomes]
rs625977	0.87[LWK][hapmap]
rs628075	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs629015	0.82[ASN][1000 genomes]
rs630006	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs630430	0.87[ASN][1000 genomes]
rs643706	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs644110	0.90[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs645406	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs657616	0.90[CHB][hapmap]
rs671335	0.93[ASN][1000 genomes]
rs673468	0.82[ASW][hapmap];0.85[YRI][hapmap]
rs674220	0.84[ASN][1000 genomes]
rs675538	0.84[ASN][1000 genomes]
rs685939	0.84[ASN][1000 genomes]
rs686392	0.84[ASN][1000 genomes]
rs686755	0.84[ASN][1000 genomes]
rs6901173	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs6901968	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs6913867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs787784	0.85[ASN][1000 genomes]
rs796835	0.84[ASN][1000 genomes]
rs9295134	0.84[CHB][hapmap];0.86[CHD][hapmap];0.87[LWK][hapmap]
rs9347478	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355327	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs9365245	0.82[AMR][1000 genomes]
rs9458102	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
4	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:161417400-161449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:161418000-161448800	Weak transcription	Lung	lung
9	chr6:161423000-161443000	Weak transcription	HepG2	liver
10	chr6:161428600-161455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:161431000-161442400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:161432200-161442400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:161432200-161450000	Weak transcription	HMEC	breast
14	chr6:161432200-161450400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:161432200-161451200	Weak transcription	NHEK	skin
16	chr6:161432600-161455400	Weak transcription	Fetal Intestine Large	intestine
17	chr6:161433000-161442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:161433000-161449000	Weak transcription	HSMM	muscle
19	chr6:161433000-161458000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:161433200-161442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:161433200-161448800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:161433200-161450000	Weak transcription	Aorta	Aorta
23	chr6:161433200-161459200	Weak transcription	Fetal Stomach	stomach
24	chr6:161433400-161443000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:161433400-161443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:161433400-161446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:161433400-161450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:161433400-161455600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:161433400-161455800	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:161433400-161455800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:161433400-161459000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:161433600-161458200	Weak transcription	Fetal Brain Female	brain
33	chr6:161433600-161459600	Weak transcription	Brain Germinal Matrix	brain
34	chr6:161433800-161444400	Weak transcription	NHDF-Ad	bronchial
35	chr6:161433800-161448400	Weak transcription	NH-A	brain
36	chr6:161433800-161451000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:161434000-161449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:161434000-161455600	Weak transcription	Adipose Nuclei	Adipose
39	chr6:161434000-161459000	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:161434200-161443800	Weak transcription	Osteobl	bone
41	chr6:161434200-161450000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:161434800-161458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:161435000-161442200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:161435000-161448800	Weak transcription	Gastric	stomach
45	chr6:161435000-161448800	Weak transcription	Pancreas	Pancrea
46	chr6:161435000-161449600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:161435000-161452200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:161435000-161458000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:161435000-161458800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:161435000-161490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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