Variant report

Variant	rs12174748
Chromosome Location	chr6:161485508-161485509
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161473331..161474860-chr6:161484363..161486590,2	K562	blood:
2	chr6:161483885..161486515-chr6:161491097..161493545,2	K562	blood:
3	chr6:161414058..161416452-chr6:161484999..161486533,2	K562	blood:
4	chr6:161484345..161486496-chr6:161504631..161506495,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12110787	0.84[CHB][hapmap];0.87[ASN][1000 genomes]
rs12665456	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs13200744	1.00[CEU][hapmap];0.94[GIH][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs13206391	0.93[EUR][1000 genomes]
rs13209847	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1980328	0.91[ASN][1000 genomes]
rs35894036	0.84[EUR][1000 genomes]
rs3736569	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs3757021	0.82[CHB][hapmap]
rs3778219	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs3798907	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3798910	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798912	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798913	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709488	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs588284	0.93[EUR][1000 genomes]
rs589238	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs590988	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs619831	0.93[EUR][1000 genomes]
rs628075	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs630430	0.93[EUR][1000 genomes]
rs643706	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs644110	0.94[GIH][hapmap]
rs6455702	0.86[ASN][1000 genomes]
rs655382	0.86[EUR][1000 genomes]
rs657616	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs685939	0.93[EUR][1000 genomes]
rs686392	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs686755	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6918051	1.00[YRI][hapmap]
rs71565787	0.82[EUR][1000 genomes]
rs71565788	0.93[EUR][1000 genomes]
rs787784	0.96[EUR][1000 genomes]
rs9295138	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs9355861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs9364587	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9365246	0.86[ASN][1000 genomes]
rs9365249	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9365251	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9456620	0.86[ASN][1000 genomes]
rs9458114	1.00[GIH][hapmap];1.00[MEX][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	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
2	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
3	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
4	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
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161435000-161490400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:161449000-161494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:161452800-161489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
5	chr6:161455200-161495800	Weak transcription	Fetal Brain Male	brain
6	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:161456800-161485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:161459400-161488800	Weak transcription	Brain Angular Gyrus	brain
9	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
10	chr6:161459800-161496600	Weak transcription	Fetal Kidney	kidney
11	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
12	chr6:161460000-161499200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:161460400-161487200	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:161460400-161488800	Weak transcription	Fetal Heart	heart
15	chr6:161460600-161495600	Weak transcription	HSMMtube	muscle
16	chr6:161462800-161485800	Weak transcription	Aorta	Aorta
17	chr6:161462800-161497200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:161462800-161497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:161463000-161489000	Weak transcription	Fetal Brain Female	brain
21	chr6:161463000-161491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:161463200-161488000	Weak transcription	Ovary	ovary
23	chr6:161463400-161491600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:161463600-161495600	Weak transcription	Pancreas	Pancrea
25	chr6:161463800-161499200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:161470400-161495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:161470600-161488800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:161470600-161492000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:161470600-161493800	Weak transcription	Fetal Thymus	thymus
30	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:161470800-161485800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:161470800-161485800	Weak transcription	Gastric	stomach
33	chr6:161470800-161485800	Weak transcription	Thymus	Thymus
34	chr6:161470800-161491600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:161470800-161491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:161471000-161485800	Weak transcription	Dnd41	blood
37	chr6:161471000-161487200	Weak transcription	NHDF-Ad	bronchial
38	chr6:161471000-161490400	Weak transcription	Lung	lung
39	chr6:161471000-161491600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:161471000-161503800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:161471200-161489000	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:161471200-161491600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:161471200-161492200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:161471200-161494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:161471400-161491800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:161471400-161500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:161471600-161491600	Weak transcription	Fetal Lung	lung
48	chr6:161471600-161494400	Weak transcription	Osteobl	bone
49	chr6:161471800-161491600	Weak transcription	Liver	Liver
50	chr6:161472000-161491600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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