Variant report

Variant	rs7198940
Chromosome Location	chr16:81605559-81605560
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
2	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
3	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
4	chr16:81512213..81514076-chr16:81604304..81607138,2	MCF-7	breast:
5	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
6	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
7	chr16:81578943..81580979-chr16:81604433..81607387,2	K562	blood:
8	chr16:81486896..81488783-chr16:81605459..81607539,2	K562	blood:

No data

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11640346	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11642655	0.82[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11644375	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11648151	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs11649004	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12918645	0.89[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12923364	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12924701	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12925388	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12926649	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12929303	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12930698	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12930850	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12931242	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12934751	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2966117	0.81[CHD][hapmap]
rs2966120	0.88[CHD][hapmap]
rs4483835	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4889341	0.80[EUR][1000 genomes]
rs6564890	0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7189295	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7196195	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs7196548	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7199293	0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8044524	0.80[TSI][hapmap]
rs8045100	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8045875	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9937613	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2752604	chr16:81595597-81606569	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
3	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:81593400-81619200	Weak transcription	K562	blood
9	chr16:81594400-81606200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:81598200-81609200	Weak transcription	Brain Angular Gyrus	brain
11	chr16:81598600-81609200	Genic enhancers	HepG2	liver
12	chr16:81599000-81608600	Genic enhancers	Fetal Intestine Small	intestine
13	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
15	chr16:81599600-81605600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:81601000-81610000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:81601000-81616200	Weak transcription	Primary T cells from cord blood	blood
19	chr16:81602000-81615600	Weak transcription	Thymus	Thymus
20	chr16:81602200-81605600	Weak transcription	Fetal Lung	lung
21	chr16:81602200-81607600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:81602200-81607800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:81602200-81615000	Weak transcription	Small Intestine	intestine
24	chr16:81602200-81616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:81602200-81617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:81602400-81611400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:81602600-81606000	Weak transcription	Fetal Thymus	thymus
28	chr16:81602600-81606000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:81602600-81607600	Weak transcription	Fetal Brain Male	brain
30	chr16:81602600-81607800	Weak transcription	Brain Substantia Nigra	brain
31	chr16:81602600-81609600	Genic enhancers	A549	lung
32	chr16:81602600-81615400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:81602600-81616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:81602600-81616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:81602600-81619200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:81602800-81605600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:81602800-81607800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:81602800-81616000	Weak transcription	HSMM	muscle
39	chr16:81603000-81608200	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:81603200-81607800	Weak transcription	Right Atrium	heart
41	chr16:81603200-81617200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:81603400-81605600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:81603400-81607600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr16:81603400-81616600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:81603600-81607600	Weak transcription	Gastric	stomach
46	chr16:81603800-81605600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:81603800-81607800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:81604000-81605800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:81604000-81606000	Weak transcription	Colonic Mucosa	Colon
50	chr16:81604000-81607600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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