Variant report

Variant	rs61082072
Chromosome Location	chr7:86543817-86543818
allele	G/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	CTCF	chr7:86543813-86544121	SK-N-SH_RA	brain:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
2	SMC3	chr7:86543817-86544200	Hela-S3	cervix:	n/a	chr7:86543980-86543994
3	RAD21	chr7:86543777-86544194	A549	lung:	n/a	chr7:86543979-86543998
4	CTCF	chr7:86543800-86543950	GM12868	blood:	n/a	n/a
5	RAD21	chr7:86543737-86544155	HepG2	liver:	n/a	chr7:86543979-86543998
6	CTCF	chr7:86543781-86544212	K562	blood:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
7	CTCF	chr7:86543775-86544175	HepG2	liver:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
8	RAD21	chr7:86543760-86544223	HCT-116	colon:	n/a	chr7:86543979-86543998
9	CTCF	chr7:86543521-86544233	A549	lung:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
10	CTCF	chr7:86543762-86544228	MCF-7	breast:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
11	CTCF	chr7:86543760-86543910	HAc	cerebellar:	n/a	n/a
12	ZNF384	chr7:86543809-86544173	K562	blood:	n/a	n/a
13	RAD21	chr7:86543802-86544225	MCF-7	breast:	n/a	chr7:86543979-86543998
14	CTCF	chr7:86543703-86544244	HCT-116	colon:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
15	CTCF	chr7:86543813-86544061	A549	lung:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
16	CTCF	chr7:86543680-86543830	GM12873	blood:	n/a	n/a
17	POLR2A	chr7:86543737-86544176	K562	blood:	n/a	n/a
18	CTCF	chr7:86543791-86544171	IMR90	lung:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001
19	GATA3	chr7:86542656-86544299	SK-N-SH	brain:	n/a	chr7:86543031-86543041 chr7:86543556-86543566
20	CTCF	chr7:86543804-86544166	GM12878	blood:	n/a	chr7:86543978-86543996 chr7:86543979-86543995 chr7:86543980-86544001

No.	Distal block	Cell Line	Cell type
1	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:
2	chr7:86543495..86544025-chr7:86866260..86866785,2	K562	blood:
3	chr7:86543110..86544214-chr7:86865915..86866860,6	MCF-7	breast:
4	chr7:86543705..86546305-chr7:86790604..86792162,2	K562	blood:
5	chr7:86538704..86541583-chr7:86542373..86544821,2	K562	blood:
6	chr7:86543490..86544424-chr7:86777437..86778157,3	MCF-7	breast:
7	chr7:86540155..86542887-chr7:86543292..86546028,3	K562	blood:
8	chr7:86542363..86546305-chr7:86789977..86792162,3	K562	blood:

Variant related genes	Relation type
KIAA1324L	TF binding region
ENSG00000164659	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1014634	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10215436	0.93[AFR][1000 genomes]
rs10232633	0.91[EUR][1000 genomes]
rs10236047	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10236910	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257473	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10258008	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10267763	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10271867	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1029367	0.95[AFR][1000 genomes]
rs11974622	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11976876	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11979332	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11981220	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12111888	0.87[AFR][1000 genomes]
rs12113681	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1476455	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1557665	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161070	0.92[EUR][1000 genomes]
rs17161096	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17161098	0.97[AFR][1000 genomes]
rs17697806	0.93[ASN][1000 genomes]
rs17697878	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17697894	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17765493	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299231	0.91[EUR][1000 genomes]
rs2373361	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28362761	0.90[AFR][1000 genomes]
rs28405414	0.97[AFR][1000 genomes]
rs28410495	0.95[AFR][1000 genomes]
rs28490267	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28583791	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28635668	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35895874	0.97[AFR][1000 genomes]
rs6465089	0.88[AFR][1000 genomes]
rs6965029	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6972489	0.97[AFR][1000 genomes]
rs73382367	0.92[AFR][1000 genomes]
rs73382375	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73382388	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73382401	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73384105	0.87[EUR][1000 genomes]
rs7783745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7810135	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9640574	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv1802698	chr7:86539563-86560268	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86495800-86550000	Weak transcription	Lung	lung
2	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:86507000-86553200	Weak transcription	Pancreas	Pancrea
4	chr7:86507400-86561400	Weak transcription	Aorta	Aorta
5	chr7:86508000-86551200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:86508000-86560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:86512600-86545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:86516000-86556400	Weak transcription	Fetal Stomach	stomach
10	chr7:86518000-86568800	Weak transcription	Psoas Muscle	Psoas
11	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:86521000-86576400	Weak transcription	Hela-S3	cervix
13	chr7:86527000-86577000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:86527200-86575800	Weak transcription	Left Ventricle	heart
15	chr7:86530400-86568400	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:86531200-86568800	Weak transcription	Brain Angular Gyrus	brain
17	chr7:86535600-86547200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:86537800-86553800	Weak transcription	Stomach Mucosa	stomach
19	chr7:86539200-86578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:86539600-86568000	Weak transcription	Fetal Brain Male	brain
21	chr7:86539800-86555400	Weak transcription	Brain Germinal Matrix	brain
22	chr7:86540600-86544200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:86540800-86544800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:86540800-86567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:86541400-86552400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:86541600-86544200	Weak transcription	Placenta	Placenta
27	chr7:86541600-86568800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:86541800-86554200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:86542400-86544200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:86542400-86546800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:86542400-86548000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:86542400-86549000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:86542600-86554400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:86542800-86544200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:86542800-86547400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:86543200-86568800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:86543400-86571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:86543600-86545400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:86543600-86545800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:86543600-86546800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:86543600-86546800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:86543600-86554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:86543600-86555600	Weak transcription	K562	blood
44	chr7:86543600-86560800	Weak transcription	HUVEC	blood vessel
45	chr7:86543600-86566600	Weak transcription	Adipose Nuclei	Adipose
46	chr7:86543800-86547600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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