Variant report

Variant	rs60206309
Chromosome Location	chr7:98982768-98982769
allele	A/G
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	POLR2A	chr7:98982751-98983568	K562	blood:	n/a	n/a
2	POLR2A	chr7:98982660-98983372	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:98982497-98983798	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
2	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
3	chr7:98981217..98982817-chr7:98983195..98985825,2	MCF-7	breast:
4	chr7:98978195..98983060-chr7:98988487..98993755,6	MCF-7	breast:

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106245	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs55645332	1.00[AMR][1000 genomes]
rs55668841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55942015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55963144	1.00[AMR][1000 genomes]
rs56072000	1.00[AMR][1000 genomes]
rs56104955	1.00[AFR][1000 genomes]
rs56144997	1.00[AMR][1000 genomes]
rs56145748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56845845	1.00[AMR][1000 genomes]
rs56992635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57467259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482580	1.00[AMR][1000 genomes]
rs58586429	1.00[AFR][1000 genomes]
rs59346440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60466806	1.00[AMR][1000 genomes]
rs61085247	1.00[AMR][1000 genomes]
rs61283116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709647	1.00[AMR][1000 genomes]
rs73709648	1.00[AMR][1000 genomes]
rs73710443	1.00[AMR][1000 genomes]
rs73710445	0.86[AFR][1000 genomes]
rs73710452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711289	1.00[AFR][1000 genomes]
rs73711292	1.00[AMR][1000 genomes]
rs73711299	1.00[AMR][1000 genomes]
rs73711300	1.00[AMR][1000 genomes]
rs73713503	1.00[AMR][1000 genomes]
rs73713504	1.00[AMR][1000 genomes]
rs73713510	1.00[AFR][1000 genomes]
rs73713518	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
2	chr7:98973400-98984000	Weak transcription	Aorta	Aorta
3	chr7:98973400-98984200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:98973400-98984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:98973400-98984200	Weak transcription	Ovary	ovary
6	chr7:98973400-98984400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:98973400-98987400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:98973400-98987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:98973400-98989800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:98977800-98984000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:98977800-98984200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:98978000-98984200	Weak transcription	HSMMtube	muscle
13	chr7:98978000-98987000	Weak transcription	Small Intestine	intestine
14	chr7:98978200-98984000	Weak transcription	Fetal Lung	lung
15	chr7:98978200-98984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:98978200-98989800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:98978400-98983200	Weak transcription	Fetal Intestine Large	intestine
18	chr7:98978400-98984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:98978400-98984200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:98978400-98984200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:98978600-98983600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:98978600-98984400	Weak transcription	NH-A	brain
23	chr7:98978800-98985000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:98978800-98989000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:98979000-98983200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:98979000-98983200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:98979000-98984000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:98979000-98984000	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:98979000-98984600	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:98979000-98989600	Weak transcription	Stomach Mucosa	stomach
31	chr7:98979200-98983000	Weak transcription	HMEC	breast
32	chr7:98979200-98983400	Genic enhancers	Primary B cells from cord blood	blood
33	chr7:98979200-98983400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr7:98979200-98983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:98979200-98984000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:98979200-98984000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:98979200-98984000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:98979200-98984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:98979200-98984200	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr7:98979200-98984400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:98979200-98987000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:98979200-98987000	Weak transcription	HSMM	muscle
43	chr7:98979200-98989600	Weak transcription	Brain Substantia Nigra	brain
44	chr7:98979400-98983000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:98979400-98983000	Weak transcription	HUVEC	blood vessel
46	chr7:98979400-98983200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:98979400-98983200	Weak transcription	Hela-S3	cervix
48	chr7:98979400-98983400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:98979400-98983400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:98979400-98983400	Weak transcription	Stomach Smooth Muscle	stomach

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