Variant report

Variant	rs6998745
Chromosome Location	chr8:61193207-61193208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61191831..61193372-chr8:61284634..61287151,2	K562	blood:
2	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:
3	chr8:61153089..61155024-chr8:61191912..61193878,2	K562	blood:
4	chr8:61188816..61193463-chr8:61245871..61250410,5	K562	blood:
5	chr8:61191754..61193804-chr8:61209326..61211666,3	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10086200	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10086352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10086449	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10088581	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs10089297	0.82[EUR][1000 genomes]
rs10093008	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10094224	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10094326	0.81[EUR][1000 genomes]
rs10094523	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10097537	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10097613	0.82[EUR][1000 genomes]
rs10098038	0.82[EUR][1000 genomes]
rs10101157	0.80[EUR][1000 genomes]
rs10105094	0.80[EUR][1000 genomes]
rs10105098	0.82[EUR][1000 genomes]
rs10105158	0.83[EUR][1000 genomes]
rs10109265	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109487	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10112099	0.82[EUR][1000 genomes]
rs10112677	0.83[EUR][1000 genomes]
rs10435600	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957125	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11774698	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11774872	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11778498	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11781514	0.91[EUR][1000 genomes]
rs13266513	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13267008	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13269899	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13274525	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13280153	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13280906	0.82[EUR][1000 genomes]
rs13281067	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13281126	0.82[EUR][1000 genomes]
rs13282489	0.81[EUR][1000 genomes]
rs1480340	0.82[CEU][hapmap]
rs1480341	0.82[EUR][1000 genomes]
rs28371059	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28376554	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28429093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28481384	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28532174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28643410	0.81[EUR][1000 genomes]
rs28759336	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35256935	0.82[EUR][1000 genomes]
rs35503542	0.82[EUR][1000 genomes]
rs35552143	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4351453	0.82[EUR][1000 genomes]
rs4527913	0.81[EUR][1000 genomes]
rs4584176	0.82[EUR][1000 genomes]
rs6471851	0.81[EUR][1000 genomes]
rs6471852	0.81[EUR][1000 genomes]
rs6471853	0.86[JPT][hapmap]
rs6471856	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471857	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471858	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471859	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983247	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs6983830	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987786	0.82[EUR][1000 genomes]
rs6990370	0.89[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002077	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7002369	0.96[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7003287	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006734	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7007157	0.80[EUR][1000 genomes]
rs7009243	0.81[EUR][1000 genomes]
rs7009482	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7463930	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7463939	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464181	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7465560	0.82[EUR][1000 genomes]
rs7814280	0.80[EUR][1000 genomes]
rs7814473	0.81[EUR][1000 genomes]
rs7824986	0.81[EUR][1000 genomes]
rs7826329	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832414	0.82[MEX][hapmap]
rs7832419	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7840279	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7841372	0.93[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7841458	0.82[EUR][1000 genomes]
rs7841804	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843385	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7845524	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9298028	0.82[EUR][1000 genomes]
rs9298031	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs9298032	0.83[EUR][1000 genomes]
rs9298033	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs9643367	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs9643368	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs9657070	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6998745	CA8	cis	lung	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61191800-61193400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:61191800-61194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:61192200-61194600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:61192200-61194800	Active TSS	Right Atrium	heart
5	chr8:61192400-61194200	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:61192400-61194200	Active TSS	A549	lung
7	chr8:61192400-61194600	Active TSS	K562	blood
8	chr8:61192600-61194400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:61192600-61194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:61192800-61194200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:61192800-61194400	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr8:61192800-61194600	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr8:61193000-61193400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr8:61193000-61193400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:61193000-61193400	Bivalent Enhancer	Liver	Liver
16	chr8:61193000-61193600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr8:61193000-61193800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:61193000-61193800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:61193000-61194000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:61193000-61194000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:61193000-61194000	Bivalent/Poised TSS	Left Ventricle	heart
22	chr8:61193000-61194400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:61193000-61194400	Active TSS	Primary T cells from cord blood	blood
24	chr8:61193000-61194400	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:61193000-61194400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr8:61193000-61194400	Bivalent/Poised TSS	Thymus	Thymus
27	chr8:61193000-61194600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:61193000-61194600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr8:61193000-61194600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr8:61193000-61194600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:61193000-61194600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr8:61193000-61194600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr8:61193000-61194600	Active TSS	Brain Hippocampus Middle	brain
34	chr8:61193000-61194600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:61193000-61194800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr8:61193000-61194800	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr8:61193000-61195000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:61193000-61195000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:61193200-61193400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:61193200-61193400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:61193200-61193400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:61193200-61193400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:61193200-61193400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
44	chr8:61193200-61193400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr8:61193200-61193400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr8:61193200-61193400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:61193200-61193400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:61193200-61193400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:61193200-61193400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr8:61193200-61193400	Bivalent Enhancer	Fetal Heart	heart

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