Variant report

Variant	rs9969318
Chromosome Location	chr7:101615100-101615101
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101585316..101588407-chr7:101614430..101618418,4	MCF-7	breast:
2	chr7:101456365..101464966-chr7:101609986..101627610,39	MCF-7	breast:
3	chr7:101611554..101613539-chr7:101614652..101616801,2	MCF-7	breast:
4	chr7:101582741..101590045-chr7:101612112..101621417,29	MCF-7	breast:
5	chr7:101500013..101501979-chr7:101614819..101616571,2	MCF-7	breast:
6	chr7:101601817..101604246-chr7:101614719..101616896,2	MCF-7	breast:
7	chr7:101605942..101607916-chr7:101613758..101615767,2	MCF-7	breast:
8	chr7:101610580..101623329-chr7:101643563..101654055,32	MCF-7	breast:
9	chr7:101497931..101500798-chr7:101614587..101617565,2	MCF-7	breast:
10	chr7:101514362..101515990-chr7:101615042..101617037,2	MCF-7	breast:
11	chr7:101605272..101609533-chr7:101610048..101615596,9	MCF-7	breast:
12	chr7:101564549..101567333-chr7:101614415..101616555,2	MCF-7	breast:
13	chr7:101608777..101611154-chr7:101612762..101615202,2	K562	blood:
14	chr7:101613081..101615918-chr7:101915707..101917227,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction
ENSG00000272219	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10231075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10236615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238938	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10254769	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10259603	1.00[JPT][hapmap]
rs10267777	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10276057	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10441233	0.96[YRI][hapmap]
rs10488042	1.00[JPT][hapmap]
rs10488043	1.00[JPT][hapmap]
rs12533258	0.92[ASN][1000 genomes]
rs12537526	1.00[JPT][hapmap]
rs17408612	1.00[JPT][hapmap]
rs17408640	1.00[JPT][hapmap]
rs17487076	1.00[JPT][hapmap]
rs17487672	1.00[JPT][hapmap]
rs202142	1.00[JPT][hapmap]
rs202147	1.00[JPT][hapmap]
rs202150	1.00[JPT][hapmap]
rs202152	1.00[JPT][hapmap]
rs2031085	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041008	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6465838	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6465839	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973312	1.00[JPT][hapmap]
rs7780631	1.00[JPT][hapmap]
rs7785266	1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7791278	0.85[AMR][1000 genomes]
rs7796818	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7796995	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805379	1.00[JPT][hapmap]
rs7810922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101586400-101615800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:101586400-101620600	Weak transcription	Adipose Nuclei	Adipose
4	chr7:101591400-101628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
6	chr7:101596200-101615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:101596400-101615800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:101597200-101621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:101597400-101616400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:101597400-101624800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:101597400-101625400	Weak transcription	NHLF	lung
13	chr7:101597600-101615800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:101597600-101624600	Weak transcription	Hela-S3	cervix
15	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:101598800-101615800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:101599200-101626200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:101601600-101626600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:101601800-101615600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:101601800-101624400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:101602600-101621600	Weak transcription	Placenta	Placenta
22	chr7:101602800-101617800	Weak transcription	Fetal Kidney	kidney
23	chr7:101603200-101615600	Weak transcription	Dnd41	blood
24	chr7:101604400-101615800	Weak transcription	Gastric	stomach
25	chr7:101604800-101629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:101605200-101616200	Weak transcription	Liver	Liver
27	chr7:101605200-101616400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:101606600-101617800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:101606800-101615800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:101606800-101628400	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:101607200-101615800	Weak transcription	Thymus	Thymus
32	chr7:101608200-101626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:101608400-101615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:101608600-101615800	Weak transcription	Psoas Muscle	Psoas
35	chr7:101608600-101618000	Weak transcription	A549	lung
36	chr7:101608600-101621600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:101608600-101621600	Weak transcription	Right Ventricle	heart
38	chr7:101608600-101625000	Weak transcription	Primary B cells from cord blood	blood
39	chr7:101608800-101615600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:101608800-101615800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:101608800-101615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:101608800-101621600	Weak transcription	Esophagus	oesophagus
43	chr7:101608800-101622000	Weak transcription	Pancreas	Pancrea
44	chr7:101608800-101627800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:101609400-101615800	Weak transcription	Fetal Heart	heart
46	chr7:101610000-101626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:101610400-101616800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:101611200-101615800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:101611400-101621200	Weak transcription	Fetal Intestine Large	intestine
50	chr7:101612400-101615800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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