Variant report

Variant	rs13018087
Chromosome Location	chr2:113327642-113327643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113327443..113331173-chr2:113335823..113339946,4	MCF-7	breast:
2	chr2:113326201..113328044-chr2:113330373..113332139,2	K562	blood:
3	chr2:113320629..113322178-chr2:113326068..113328605,2	K562	blood:
4	chr2:113317506..113319132-chr2:113326152..113328892,2	K562	blood:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction
ENSG00000207383	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13015822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34117931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34137042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35684403	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66571556	1.00[AMR][1000 genomes];1.00[EUR][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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13018087	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
2	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113303000-113334400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:113303000-113334400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:113303000-113335200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113303200-113334200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:113303200-113334600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:113303400-113334400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:113303400-113334600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:113303600-113334000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:113303600-113334400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:113303600-113334400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:113303600-113334400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:113303600-113334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:113303600-113334600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:113303600-113334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:113303600-113334800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:113303600-113335000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113303600-113335000	Strong transcription	Fetal Thymus	thymus
20	chr2:113303600-113335200	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:113303800-113334800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:113304000-113327800	Strong transcription	Dnd41	blood
23	chr2:113304400-113333600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:113304400-113334200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr2:113304400-113334400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:113304400-113335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:113304600-113329400	Strong transcription	Fetal Stomach	stomach
28	chr2:113304600-113334400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:113305400-113334000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:113305400-113334800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:113306600-113334400	Strong transcription	Liver	Liver
32	chr2:113306800-113334600	Strong transcription	HepG2	liver
33	chr2:113311200-113331200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:113312400-113334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:113314600-113335000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:113314800-113334600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:113315400-113333800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:113315600-113335000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:113317000-113331200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:113320200-113329800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:113320800-113334200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:113320800-113334800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:113320800-113335000	Strong transcription	A549	lung
44	chr2:113321000-113334400	Strong transcription	Fetal Intestine Large	intestine
45	chr2:113321200-113328400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:113321200-113334200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:113321200-113335000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:113321600-113334400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr2:113321600-113334600	Strong transcription	NHEK	skin
50	chr2:113322200-113334200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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