Variant report

Variant	rs2041830
Chromosome Location	chr7:104536783-104536784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104532796..104534517-chr7:104535357..104537671,2	K562	blood:
2	chr7:104523942..104525943-chr7:104535712..104537774,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10247369	0.93[EUR][1000 genomes]
rs1075229	0.90[ASN][1000 genomes]
rs10808135	0.87[EUR][1000 genomes]
rs11561931	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs12665943	0.90[ASN][1000 genomes]
rs12667927	0.91[EUR][1000 genomes]
rs13232695	0.92[CEU][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs17173	0.81[TSI][hapmap]
rs17706864	0.91[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.92[MKK][hapmap];0.85[YRI][hapmap];0.92[ASN][1000 genomes]
rs2214083	0.80[EUR][1000 genomes]
rs2891785	0.88[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs34477839	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35514223	0.90[ASN][1000 genomes]
rs3815553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62485455	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735443	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs7458894	0.85[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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv981792	chr7:104524351-104538104	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2041830	POLR2J	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
3	chr7:104527800-104539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104531400-104541800	Weak transcription	Pancreas	Pancrea
5	chr7:104531400-104542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:104534400-104537000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:104534400-104537200	Genic enhancers	Fetal Intestine Small	intestine
8	chr7:104534600-104538200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:104534600-104538400	Flanking Active TSS	GM12878-XiMat	blood
10	chr7:104535000-104539800	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:104535000-104557000	Weak transcription	Fetal Kidney	kidney
12	chr7:104535400-104537800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:104535600-104537000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:104535600-104538000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:104535600-104542400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:104535800-104537200	Enhancers	Small Intestine	intestine
17	chr7:104536400-104537000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:104536600-104536800	Genic enhancers	Fetal Intestine Large	intestine
19	chr7:104536600-104537000	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:104536600-104537000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:104536600-104537000	Enhancers	HMEC	breast
22	chr7:104536600-104537200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:104536600-104537600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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