Variant report

Variant	rs6742905
Chromosome Location	chr2:172779669-172779670
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172777448..172780686-chr2:172863264..172866650,5	K562	blood:
2	chr2:172690324..172692535-chr2:172778951..172781144,3	K562	blood:
3	chr2:172779206..172781039-chr2:172947710..172950652,2	K562	blood:
4	chr2:172776261..172781039-chr2:172946394..172953961,9	K562	blood:
5	chr2:172777519..172781580-chr2:172819100..172823049,4	K562	blood:
6	chr2:172778049..172781927-chr2:172965294..172970550,9	K562	blood:
7	chr2:172777448..172780536-chr2:172864307..172867165,5	K562	blood:
8	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
9	chr2:172749385..172752362-chr2:172779098..172783248,3	MCF-7	breast:
10	chr2:172749065..172752809-chr2:172776821..172780584,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115844	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10177679	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179020	0.98[EUR][1000 genomes]
rs10188587	0.84[ASN][1000 genomes]
rs10191399	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10196521	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201520	0.86[EUR][1000 genomes]
rs10432474	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10439296	0.84[ASN][1000 genomes]
rs10930498	0.84[ASN][1000 genomes]
rs10930500	0.84[ASN][1000 genomes]
rs10930501	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1105264	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11676484	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677573	1.00[ASN][1000 genomes]
rs11683436	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11692418	0.84[ASN][1000 genomes]
rs11695887	0.84[ASN][1000 genomes]
rs11883977	0.82[ASN][1000 genomes]
rs11903123	1.00[EUR][1000 genomes]
rs11903410	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12467010	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468218	0.84[ASN][1000 genomes]
rs12471160	0.83[EUR][1000 genomes]
rs12473516	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478215	0.84[ASN][1000 genomes]
rs12479374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13012103	0.86[EUR][1000 genomes]
rs13399316	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400816	1.00[EUR][1000 genomes]
rs1443699	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1443700	0.80[ASN][1000 genomes]
rs1517678	0.83[EUR][1000 genomes]
rs1543168	0.83[EUR][1000 genomes]
rs1607253	0.86[EUR][1000 genomes]
rs1878583	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1982288	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996425	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2028670	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028671	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028672	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2028673	0.83[ASN][1000 genomes]
rs2028674	0.83[ASN][1000 genomes]
rs2292813	0.89[EUR][1000 genomes]
rs2292814	0.83[EUR][1000 genomes]
rs2357207	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357208	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372952	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770443	1.00[EUR][1000 genomes]
rs3770444	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3770457	1.00[EUR][1000 genomes]
rs3791343	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821092	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3821094	0.98[EUR][1000 genomes]
rs3821096	1.00[EUR][1000 genomes]
rs4072279	0.84[ASN][1000 genomes]
rs4507064	0.89[EUR][1000 genomes]
rs4668417	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59853867	0.84[ASN][1000 genomes]
rs60706248	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182438	0.85[ASN][1000 genomes]
rs6433313	1.00[EUR][1000 genomes]
rs6433315	1.00[EUR][1000 genomes]
rs6433316	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433318	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433322	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6707142	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714214	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6726050	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6733123	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6740705	0.84[ASN][1000 genomes]
rs6753551	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6753859	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6758494	0.84[ASN][1000 genomes]
rs7340516	0.84[ASN][1000 genomes]
rs7371503	0.90[ASN][1000 genomes]
rs7371631	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7579509	0.84[ASN][1000 genomes]
rs7580132	0.84[ASN][1000 genomes]
rs7583860	0.82[ASN][1000 genomes]
rs7594478	0.82[ASN][1000 genomes]
rs7597525	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598232	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7604933	0.84[EUR][1000 genomes]
rs9287948	0.83[EUR][1000 genomes]
rs949548	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
3	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172778200-172779800	Active TSS	Brain Anterior Caudate	brain
2	chr2:172778200-172779800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:172778200-172780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:172778200-172780000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:172778400-172779800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:172778400-172779800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:172778400-172779800	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:172778400-172779800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:172778400-172779800	Active TSS	Fetal Muscle Trunk	muscle
10	chr2:172778400-172779800	Active TSS	Left Ventricle	heart
11	chr2:172778400-172779800	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:172778400-172779800	Active TSS	GM12878-XiMat	blood
13	chr2:172778400-172780000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr2:172778400-172780000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:172778400-172780000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:172778400-172780000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:172778400-172780000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:172778400-172780000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:172778400-172780000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:172778400-172780000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr2:172778400-172780000	Active TSS	Brain Angular Gyrus	brain
22	chr2:172778400-172780000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:172778400-172780000	Active TSS	Colonic Mucosa	Colon
24	chr2:172778400-172780000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:172778400-172780000	Active TSS	Fetal Lung	lung
26	chr2:172778400-172780000	Active TSS	Psoas Muscle	Psoas
27	chr2:172778400-172780000	Active TSS	Right Ventricle	heart
28	chr2:172778400-172780000	Active TSS	HMEC	breast
29	chr2:172778400-172780000	Active TSS	HSMMtube	muscle
30	chr2:172778400-172780000	Active TSS	NHDF-Ad	bronchial
31	chr2:172778400-172780000	Active TSS	NHLF	lung
32	chr2:172778400-172780200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr2:172778400-172780200	Active TSS	Ovary	ovary
34	chr2:172778400-172780200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:172778400-172780400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:172778400-172780400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:172778400-172780400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:172778400-172780400	Active TSS	Right Atrium	heart
39	chr2:172778400-172780800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:172778600-172779800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:172778600-172779800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:172778600-172779800	Active TSS	Aorta	Aorta
43	chr2:172778600-172779800	Active TSS	Brain Hippocampus Middle	brain
44	chr2:172778600-172779800	Active TSS	Brain Substantia Nigra	brain
45	chr2:172778600-172779800	Active TSS	Colon Smooth Muscle	Colon
46	chr2:172778600-172779800	Active TSS	Fetal Intestine Large	intestine
47	chr2:172778600-172779800	Active TSS	Placenta	Placenta
48	chr2:172778600-172779800	Active TSS	Fetal Stomach	stomach
49	chr2:172778600-172779800	Active TSS	Dnd41	blood
50	chr2:172778600-172780000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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