Variant report

Variant	rs4624945
Chromosome Location	chr7:140376571-140376572
allele	A/C
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	MTA3	chr7:140375695-140376626	GM12878	blood:	n/a	n/a
2	SPI1	chr7:140375696-140376931	GM12878	blood:	n/a	chr7:140376301-140376310 chr7:140376297-140376306
3	RAD21	chr7:140374883-140376639	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
3	chr7:140376401..140379049-chr7:140712794..140714370,2	K562	blood:
4	chr7:140374747..140377126-chr7:140623652..140625278,2	K562	blood:
5	chr7:140376267..140379016-chr7:140712794..140714827,3	K562	blood:

Variant related genes	Relation type
DENND2A	TF binding region
ADCK2	TF binding region
ENSG00000157764	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000090263	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10228254	0.85[ASN][1000 genomes]
rs10258462	0.85[ASN][1000 genomes]
rs10258465	0.85[ASN][1000 genomes]
rs10260676	0.83[ASN][1000 genomes]
rs1140034	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375245	0.81[ASN][1000 genomes]
rs17161668	0.81[ASN][1000 genomes]
rs2364393	0.85[ASN][1000 genomes]
rs2364394	0.85[ASN][1000 genomes]
rs2364395	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364397	0.81[ASN][1000 genomes]
rs28517771	0.90[ASN][1000 genomes]
rs2907950	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2930315	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2930318	0.94[ASN][1000 genomes]
rs2930319	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2930331	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968549	0.87[ASN][1000 genomes]
rs2968550	0.87[ASN][1000 genomes]
rs2968551	0.92[ASN][1000 genomes]
rs2968553	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2968555	0.96[ASN][1000 genomes]
rs2968558	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968559	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725799	0.81[ASN][1000 genomes]
rs4727011	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727021	0.81[ASN][1000 genomes]
rs4727036	0.81[ASN][1000 genomes]
rs6464937	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977834	0.87[ASN][1000 genomes]
rs73505645	0.90[ASN][1000 genomes]
rs73505647	0.88[ASN][1000 genomes]
rs7792746	0.88[ASN][1000 genomes]
rs7794857	0.85[ASN][1000 genomes]
rs7803697	0.87[ASN][1000 genomes]
rs7809339	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4624945	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140373400-140383200	Weak transcription	HSMMtube	muscle
2	chr7:140373600-140377800	Enhancers	Primary B cells from cord blood	blood
3	chr7:140373600-140385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:140373800-140376800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:140373800-140378200	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:140373800-140378800	Weak transcription	Left Ventricle	heart
7	chr7:140373800-140380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:140373800-140395600	Weak transcription	NH-A	brain
9	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:140374000-140377400	Weak transcription	Gastric	stomach
12	chr7:140374000-140377800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:140374000-140379000	Weak transcription	Fetal Intestine Large	intestine
14	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
15	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
16	chr7:140374200-140377400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:140374200-140377800	Weak transcription	Pancreas	Pancrea
18	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
21	chr7:140374400-140376600	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:140374400-140376800	Weak transcription	Fetal Intestine Small	intestine
23	chr7:140374400-140377600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:140374400-140377800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:140374400-140378600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
28	chr7:140374600-140377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:140374600-140377600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:140374600-140377600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:140374600-140377600	Weak transcription	Esophagus	oesophagus
32	chr7:140374600-140377600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:140374600-140377800	Weak transcription	Aorta	Aorta
34	chr7:140374600-140378000	Weak transcription	Lung	lung
35	chr7:140374600-140378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:140374600-140378400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:140374600-140378600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:140374600-140378600	Weak transcription	Right Ventricle	heart
39	chr7:140374600-140380000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:140374600-140383200	Weak transcription	HUVEC	blood vessel
41	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:140374600-140395600	Weak transcription	A549	lung
43	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
45	chr7:140374800-140383200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:140374800-140383600	Weak transcription	Fetal Heart	heart
47	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
48	chr7:140375000-140377400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:140375000-140377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:140375000-140385000	Strong transcription	Fetal Muscle Trunk	muscle

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