Variant report

Variant	rs2364395
Chromosome Location	chr7:140377029-140377030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140376401..140379049-chr7:140712794..140714370,2	K562	blood:
3	chr7:140374747..140377126-chr7:140623652..140625278,2	K562	blood:
4	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
5	chr7:140376267..140379016-chr7:140712794..140714827,3	K562	blood:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000090263	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	0.89[AFR][1000 genomes];0.93[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]
rs2364397	0.81[ASN][1000 genomes]
rs28517771	0.90[ASN][1000 genomes]
rs2907950	0.89[ASN][1000 genomes]
rs2930315	0.94[ASN][1000 genomes]
rs2930318	0.94[ASN][1000 genomes]
rs2930319	0.94[ASN][1000 genomes]
rs2930331	0.89[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	0.94[ASN][1000 genomes]
rs2968555	0.96[ASN][1000 genomes]
rs2968558	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968559	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4624945	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725799	0.81[ASN][1000 genomes]
rs4727011	0.91[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	0.89[AFR][1000 genomes];0.93[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
rs2364395	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	chr7:140373800-140378200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:140373800-140378800	Weak transcription	Left Ventricle	heart
6	chr7:140373800-140380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:140373800-140395600	Weak transcription	NH-A	brain
8	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:140374000-140377400	Weak transcription	Gastric	stomach
11	chr7:140374000-140377800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:140374000-140379000	Weak transcription	Fetal Intestine Large	intestine
13	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
14	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
15	chr7:140374200-140377400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:140374200-140377800	Weak transcription	Pancreas	Pancrea
17	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
20	chr7:140374400-140377600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:140374400-140377800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:140374400-140378600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
25	chr7:140374600-140377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:140374600-140377600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:140374600-140377600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:140374600-140377600	Weak transcription	Esophagus	oesophagus
29	chr7:140374600-140377600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:140374600-140377800	Weak transcription	Aorta	Aorta
31	chr7:140374600-140378000	Weak transcription	Lung	lung
32	chr7:140374600-140378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:140374600-140378400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:140374600-140378600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:140374600-140378600	Weak transcription	Right Ventricle	heart
36	chr7:140374600-140380000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:140374600-140383200	Weak transcription	HUVEC	blood vessel
38	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:140374600-140395600	Weak transcription	A549	lung
40	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
42	chr7:140374800-140383200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:140374800-140383600	Weak transcription	Fetal Heart	heart
44	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
45	chr7:140375000-140377400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:140375000-140377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:140375000-140385000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr7:140375200-140378000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:140375400-140377800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:140375400-140377800	Weak transcription	Fetal Brain Female	brain

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