Variant report

Variant	rs11694955
Chromosome Location	chr2:48687135-48687136
allele	C/G
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	TEAD4	chr2:48687081-48687564	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48683830..48685937-chr2:48687115..48689395,2	K562	blood:

Variant related genes	Relation type
PPP1R21	TF binding region

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10182093	0.82[EUR][1000 genomes]
rs10191938	0.82[EUR][1000 genomes]
rs10195717	0.83[EUR][1000 genomes]
rs10197359	0.83[EUR][1000 genomes]
rs11674217	0.90[EUR][1000 genomes]
rs11674317	1.00[AFR][1000 genomes]
rs11674683	1.00[AFR][1000 genomes]
rs11675947	1.00[AFR][1000 genomes]
rs11676078	0.90[EUR][1000 genomes]
rs11677350	1.00[AFR][1000 genomes]
rs11678825	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11678934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11679518	1.00[AFR][1000 genomes]
rs11679685	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11680968	1.00[AFR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11683202	0.90[EUR][1000 genomes]
rs11687401	1.00[AFR][1000 genomes]
rs11687461	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11687771	0.82[AMR][1000 genomes]
rs11687851	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11688465	1.00[AFR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11692537	0.90[EUR][1000 genomes]
rs11694094	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13398456	0.83[EUR][1000 genomes]
rs17325698	1.00[AFR][1000 genomes]
rs17397449	0.91[EUR][1000 genomes]
rs17397707	1.00[AFR][1000 genomes]
rs28505584	0.90[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72889641	0.83[EUR][1000 genomes]
rs7573281	0.90[EUR][1000 genomes]
rs7584796	0.90[EUR][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11694955	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
3	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
4	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:48675800-48687800	Weak transcription	Fetal Kidney	kidney
8	chr2:48676200-48692000	Weak transcription	Psoas Muscle	Psoas
9	chr2:48676800-48688000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:48677800-48687200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:48678200-48688000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
16	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:48678400-48688200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:48678400-48688600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:48678400-48695600	Strong transcription	Dnd41	blood
20	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:48679000-48688000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
30	chr2:48679600-48693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:48679600-48697800	Weak transcription	Fetal Heart	heart
32	chr2:48680000-48696200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:48680400-48695800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:48680800-48696600	Strong transcription	Liver	Liver
36	chr2:48681000-48691600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:48681000-48696400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:48681200-48699400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:48681600-48695400	Strong transcription	HepG2	liver
40	chr2:48681600-48696200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:48681600-48696200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:48681600-48696200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:48681600-48696400	Strong transcription	Fetal Intestine Large	intestine
44	chr2:48681600-48696800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:48681800-48687800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:48681800-48688800	Strong transcription	Colon Smooth Muscle	Colon
47	chr2:48681800-48691400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:48681800-48692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:48681800-48696000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:48681800-48696200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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