Variant report

Variant	rs484621
Chromosome Location	chr6:106734408-106734409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:106734069-106735062	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106726791..106729704-chr6:106731608..106734552,2	K562	blood:

Variant related genes	Relation type
RN7SL47P	TF binding region
ENSG00000057663	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11152977	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs12197000	0.89[ASW][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12212377	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1475270	0.96[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1951485	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2284193	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2743559	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs473543	0.82[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs490010	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4946732	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs506027	0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs510432	1.00[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs524428	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs532906	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs546456	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs547738	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs579801	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs594819	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs597443	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs617994	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs644232	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs665791	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs669975	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs698029	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs803360	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs803362	0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised 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	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
2	chr6:106695800-106740800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:106699200-106767400	Weak transcription	Stomach Mucosa	stomach
4	chr6:106706200-106739600	Weak transcription	Hela-S3	cervix
5	chr6:106709000-106739000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:106709800-106739200	Weak transcription	HSMMtube	muscle
7	chr6:106710400-106738800	Weak transcription	HepG2	liver
8	chr6:106711600-106739800	Weak transcription	Fetal Stomach	stomach
9	chr6:106711600-106739800	Weak transcription	Thymus	Thymus
10	chr6:106711600-106762800	Weak transcription	Pancreas	Pancrea
11	chr6:106711600-106762800	Weak transcription	Right Ventricle	heart
12	chr6:106712800-106739600	Weak transcription	Psoas Muscle	Psoas
13	chr6:106713600-106747800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:106715800-106739200	Weak transcription	Fetal Heart	heart
15	chr6:106717400-106741800	Weak transcription	Colonic Mucosa	Colon
16	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
17	chr6:106720000-106735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:106720200-106738200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:106720400-106734800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:106720400-106738600	Weak transcription	Fetal Brain Male	brain
21	chr6:106720600-106739600	Weak transcription	Aorta	Aorta
22	chr6:106720600-106760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:106721800-106737200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:106721800-106739400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:106722200-106739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:106723000-106736400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:106723000-106739600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:106723000-106771800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:106723200-106735000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:106723800-106734800	Weak transcription	Fetal Kidney	kidney
31	chr6:106724000-106739200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:106724000-106739400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:106724600-106739200	Weak transcription	HUVEC	blood vessel
34	chr6:106726200-106739000	Weak transcription	Lung	lung
35	chr6:106726600-106734800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:106727000-106738200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:106727200-106736600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:106727200-106738400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:106727200-106739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:106727400-106734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:106727400-106735000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:106727400-106735000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:106727400-106737000	Weak transcription	Primary T cells from cord blood	blood
44	chr6:106727400-106738200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:106727400-106738400	Weak transcription	Liver	Liver
46	chr6:106727400-106738600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:106727400-106738600	Weak transcription	A549	lung
48	chr6:106727400-106738800	Weak transcription	Fetal Lung	lung
49	chr6:106727400-106739000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:106727400-106739200	Weak transcription	Adipose Nuclei	Adipose

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