Variant report

Variant	rs4835111
Chromosome Location	chr4:148848283-148848284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17024101	1.00[CHB][hapmap]
rs17024109	1.00[CHB][hapmap]
rs17024163	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs41435251	1.00[ASW][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4835111	CCNC	trans	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797400-148879600	Weak transcription	Gastric	stomach
5	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
6	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
7	chr4:148820800-148848800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:148824600-148854400	Weak transcription	Right Ventricle	heart
10	chr4:148825200-148848400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:148825400-148861200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
13	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
14	chr4:148827400-148861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:148829400-148864200	Weak transcription	Primary T cells from cord blood	blood
16	chr4:148831600-148849000	Weak transcription	NH-A	brain
17	chr4:148832200-148848800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:148832200-148854400	Weak transcription	NHEK	skin
19	chr4:148833600-148848400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:148833600-148877400	Weak transcription	Small Intestine	intestine
21	chr4:148834800-148849000	Weak transcription	NHLF	lung
22	chr4:148834800-148861400	Weak transcription	Fetal Intestine Large	intestine
23	chr4:148835000-148867200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:148835000-148869000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:148835600-148848800	Weak transcription	Fetal Stomach	stomach
26	chr4:148835600-148854400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:148836400-148848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:148836400-148861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:148836600-148867000	Weak transcription	HMEC	breast
30	chr4:148837600-148850600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:148837800-148854400	Weak transcription	Left Ventricle	heart
32	chr4:148838400-148848400	Weak transcription	HUVEC	blood vessel
33	chr4:148838400-148848800	Weak transcription	NHDF-Ad	bronchial
34	chr4:148838400-148858400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148838600-148848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:148838800-148849400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:148838800-148854400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:148840200-148853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:148843000-148848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:148843400-148848400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:148843400-148848400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:148843400-148848400	Weak transcription	Aorta	Aorta
43	chr4:148843400-148848400	Weak transcription	Ovary	ovary
44	chr4:148843400-148848800	Weak transcription	Lung	lung
45	chr4:148843400-148854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:148843400-148854400	Weak transcription	HSMMtube	muscle
47	chr4:148843600-148848400	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:148843600-148848400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:148844600-148850000	Weak transcription	Fetal Brain Male	brain
50	chr4:148846200-148848800	Weak transcription	Colon Smooth Muscle	Colon

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