Variant report

Variant	rs17149512
Chromosome Location	chr7:87028159-87028160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87022223..87024497-chr7:87027148..87029253,2	MCF-7	breast:
2	chr7:87026550..87029419-chr7:87039451..87043788,3	MCF-7	breast:
3	chr7:87018738..87020609-chr7:87027169..87029487,2	K562	blood:
4	chr7:87026726..87029801-chr7:87032542..87035060,3	MCF-7	breast:
5	chr7:87027992..87031252-chr7:87041003..87044064,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005471	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1017054	1.00[CEU][hapmap]
rs10487804	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762311	1.00[YRI][hapmap]
rs11768699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs11771569	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs11773089	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149601	1.00[CEU][hapmap]
rs17149606	1.00[CEU][hapmap]
rs2051950	0.80[CEU][hapmap];0.84[GIH][hapmap];0.85[EUR][1000 genomes]
rs35737120	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45437295	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45443210	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45505301	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45517839	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45521742	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540936	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45543841	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45549532	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45549641	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45552832	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45609336	0.81[EUR][1000 genomes]
rs55953428	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56146479	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs60509911	0.86[EUR][1000 genomes]
rs60757438	0.85[EUR][1000 genomes]
rs6956661	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs6957680	1.00[CEU][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs6977539	1.00[CEU][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs6977739	1.00[CEU][hapmap]
rs7776867	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786781	0.80[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[EUR][1000 genomes]
rs7788404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800628	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[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	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86975600-87029800	Weak transcription	Psoas Muscle	Psoas
2	chr7:86975800-87031000	Weak transcription	Pancreas	Pancrea
3	chr7:86980000-87085600	Weak transcription	Right Ventricle	heart
4	chr7:86980200-87028600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:86987000-87028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:86987000-87051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:86987400-87028400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:86997600-87029200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:86999800-87029400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:87000600-87029000	Weak transcription	A549	lung
11	chr7:87017200-87030800	Weak transcription	Fetal Thymus	thymus
12	chr7:87017400-87028400	Weak transcription	Left Ventricle	heart
13	chr7:87017400-87029600	Weak transcription	Lung	lung
14	chr7:87017600-87033000	Weak transcription	GM12878-XiMat	blood
15	chr7:87019800-87079400	Strong transcription	Liver	Liver
16	chr7:87021800-87028600	Strong transcription	Fetal Intestine Large	intestine
17	chr7:87022600-87037400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:87022800-87031200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:87023600-87029800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:87023600-87033600	Weak transcription	Fetal Heart	heart
21	chr7:87024600-87031600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:87024800-87028200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:87024800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:87025000-87028800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:87025200-87040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:87025400-87030200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:87025600-87028400	Weak transcription	Aorta	Aorta
28	chr7:87025600-87029600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:87025600-87031400	Weak transcription	Primary T cells from cord blood	blood
30	chr7:87025600-87033000	Weak transcription	Fetal Stomach	stomach
31	chr7:87025600-87034200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:87025600-87035200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:87025800-87028200	Weak transcription	Adipose Nuclei	Adipose
34	chr7:87025800-87030000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr7:87025800-87030200	Weak transcription	Dnd41	blood
36	chr7:87025800-87030800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:87025800-87032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:87025800-87035400	Weak transcription	HepG2	liver
39	chr7:87026000-87028200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:87026000-87043000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:87026400-87031200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:87026800-87028200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:87026800-87030800	Weak transcription	Fetal Intestine Small	intestine
44	chr7:87027000-87028400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:87027000-87028600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:87027000-87028800	Enhancers	NHDF-Ad	bronchial
47	chr7:87027200-87028600	Enhancers	NHEK	skin
48	chr7:87027200-87029200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:87027200-87038200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:87027400-87029400	Strong transcription	Duodenum Mucosa	Duodenum

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