Variant report

Variant	rs34753356
Chromosome Location	chr8:91682497-91682498
allele	AT/CC
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91653197..91659696-chr8:91680011..91690485,28	MCF-7	breast:
2	chr8:91660322..91664310-chr8:91681072..91684621,6	MCF-7	breast:
3	chr8:91675067..91677256-chr8:91678996..91683424,4	K562	blood:
4	chr8:91681720..91683861-chr8:91687686..91689545,2	K562	blood:
5	chr8:91669120..91671643-chr8:91681940..91683479,2	K562	blood:
6	chr8:91681513..91683796-chr8:91702436..91704437,2	MCF-7	breast:
7	chr8:91656547..91658787-chr8:91681299..91684513,3	K562	blood:
8	chr8:91680263..91682720-chr8:91684453..91686696,2	K562	blood:
9	chr8:91652941..91663346-chr8:91680436..91690653,24	MCF-7	breast:
10	chr8:91682030..91684734-chr8:91686454..91688857,3	MCF-7	breast:
11	chr8:91681989..91684010-chr8:91924151..91925843,2	MCF-7	breast:
12	chr8:91681994..91684402-chr8:91926496..91928050,2	MCF-7	breast:
13	chr8:91671956..91674475-chr8:91679710..91683408,3	K562	blood:
14	chr8:91670143..91672492-chr8:91681979..91683592,2	K562	blood:
15	chr8:91669462..91675137-chr8:91678478..91682798,5	MCF-7	breast:
16	chr8:91650893..91653020-chr8:91682221..91684113,2	K562	blood:
17	chr8:91682168..91683156-chr8:91704088..91704602,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10090406	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10091274	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808624	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808625	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808626	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956763	0.80[ASN][1000 genomes]
rs1125502	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11777332	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16905145	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35547810	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4236824	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4236825	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4236826	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4236828	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4301409	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4323436	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4330649	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4330650	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4332092	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4335090	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4335091	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4338064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4376466	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4377923	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4377924	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4442097	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4538831	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4606020	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4637779	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4642598	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735306	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735308	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735309	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471243	0.81[ASN][1000 genomes]
rs6471245	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471248	0.80[ASN][1000 genomes]
rs6471249	0.80[ASN][1000 genomes]
rs6985723	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993648	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6994433	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998736	0.81[ASN][1000 genomes]
rs7003026	0.81[ASN][1000 genomes]
rs7009348	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017260	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7818125	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7832679	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839617	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7840113	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885497	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91678800-91682600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:91679000-91682600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:91679000-91682600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:91679000-91682600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:91679000-91682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:91679000-91683000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:91679000-91683400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:91679000-91688000	Weak transcription	Aorta	Aorta
9	chr8:91679200-91683000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:91679200-91683000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:91679600-91682600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:91680400-91682600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:91680400-91683400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:91680600-91683800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:91680600-91684400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:91680600-91689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:91681000-91682600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:91681000-91684600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:91681600-91684000	Enhancers	Fetal Heart	heart
20	chr8:91681600-91684000	Enhancers	HMEC	breast
21	chr8:91681600-91684200	Enhancers	Rectal Smooth Muscle	rectum
22	chr8:91681600-91684400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:91681800-91682800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:91681800-91683400	Enhancers	HSMMtube	muscle
25	chr8:91681800-91684000	Enhancers	HSMM	muscle
26	chr8:91681800-91684200	Enhancers	Colon Smooth Muscle	Colon
27	chr8:91681800-91684400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:91682000-91684000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:91682000-91684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:91682000-91684400	Enhancers	NHEK	skin
31	chr8:91682000-91685800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:91682200-91682600	Enhancers	Hela-S3	cervix
33	chr8:91682200-91682800	Enhancers	A549	lung
34	chr8:91682200-91684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:91682400-91682800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:91682400-91683000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:91682400-91683600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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