Variant report

Variant	rs617639
Chromosome Location	chr11:75258757-75258758
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75258371..75261326-chr11:75265585..75267685,5	MCF-7	breast:
2	chr11:75258253..75259253-chr11:75292571..75293530,2	K562	blood:
3	chr11:75257006..75261542-chr11:75285298..75289565,6	MCF-7	breast:
4	chr11:75258395..75259228-chr11:75288020..75288973,2	MCF-7	breast:
5	chr11:75110955..75113075-chr11:75257381..75260358,2	K562	blood:
6	chr11:75112349..75114829-chr11:75258143..75260028,2	K562	blood:
7	chr11:75258697..75259264-chr11:75578629..75579343,2	K562	blood:
8	chr11:75258692..75259236-chr11:75303363..75304268,2	MCF-7	breast:
9	chr11:75258322..75259433-chr11:75274625..75275593,5	K562	blood:
10	chr11:75156462..75157034-chr11:75258313..75259336,3	K562	blood:
11	chr11:75258332..75258856-chr11:75285664..75286438,2	MCF-7	breast:
12	chr11:75156089..75156919-chr11:75258319..75258868,2	MCF-7	breast:
13	chr11:75234357..75236903-chr11:75257147..75259155,2	K562	blood:
14	chr11:75258278..75259215-chr11:75285662..75286369,4	K562	blood:
15	chr11:75258246..75259322-chr11:75287899..75289209,5	K562	blood:
16	chr11:75258598..75261334-chr11:75297615..75299560,2	K562	blood:
17	chr11:75258291..75259018-chr11:75294349..75294880,2	MCF-7	breast:
18	chr11:75257209..75261351-chr11:75271814..75277421,8	K562	blood:
19	chr11:75257733..75259300-chr11:75307699..75309640,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000255434	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10899093	0.81[ASN][1000 genomes]
rs10899094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1612604	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1783553	0.80[ASN][1000 genomes]
rs4945015	1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55669825	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs598186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs602516	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634530	0.85[ASN][1000 genomes]
rs659453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs663660	0.88[ASN][1000 genomes]
rs680988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs687096	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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75237800-75258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:75246400-75265800	Weak transcription	Right Atrium	heart
3	chr11:75248800-75258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:75255800-75258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:75258000-75260600	Enhancers	K562	blood
6	chr11:75258200-75259400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:75258200-75260600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:75258400-75259400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:75258600-75258800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:75258600-75258800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:75258600-75259200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:75258600-75259200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:75258600-75259200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:75258600-75259200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:75258600-75259200	Enhancers	Fetal Intestine Large	intestine
16	chr11:75258600-75259400	Enhancers	Colon Smooth Muscle	Colon
17	chr11:75258600-75259400	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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