Variant report

Variant	rs4430361
Chromosome Location	chr1:61909979-61909980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61908598..61910264-chr1:61911011..61913246,2	MCF-7	breast:
2	chr1:61907553..61910063-chr1:61911790..61914135,2	K562	blood:
3	chr1:61907582..61910159-chr1:61917451..61919500,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12092067	1.00[AMR][1000 genomes]
rs12095123	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers 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 target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61874800-61910000	Weak transcription	Fetal Brain Female	brain
2	chr1:61875800-61911800	Weak transcription	K562	blood
3	chr1:61877800-61912000	Weak transcription	Esophagus	oesophagus
4	chr1:61887400-61910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:61892400-61912000	Weak transcription	Brain Germinal Matrix	brain
6	chr1:61892600-61910600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:61900000-61914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:61900000-61918000	Weak transcription	HSMMtube	muscle
9	chr1:61900200-61912000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:61900600-61910800	Weak transcription	NHEK	skin
11	chr1:61900600-61911800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:61901000-61914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:61902000-61918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:61902800-61911600	Weak transcription	Fetal Brain Male	brain
15	chr1:61903000-61911600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:61903000-61914800	Weak transcription	Lung	lung
17	chr1:61903000-61915600	Weak transcription	Gastric	stomach
18	chr1:61903000-61928800	Weak transcription	Pancreas	Pancrea
19	chr1:61903200-61911800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:61905400-61910600	Weak transcription	Stomach Mucosa	stomach
21	chr1:61905800-61918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:61906600-61910200	Enhancers	Fetal Intestine Large	intestine
23	chr1:61907200-61911000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:61907600-61910000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:61907600-61910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:61907600-61910400	Enhancers	A549	lung
27	chr1:61907800-61910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:61907800-61917400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:61907800-61918000	Weak transcription	NHLF	lung
30	chr1:61908000-61911800	Weak transcription	Ovary	ovary
31	chr1:61908000-61912200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:61908000-61913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:61908000-61916000	Weak transcription	Placenta	Placenta
34	chr1:61908000-61919400	Enhancers	Fetal Muscle Leg	muscle
35	chr1:61908000-61920200	Enhancers	Adipose Nuclei	Adipose
36	chr1:61908200-61910400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:61908400-61910000	Weak transcription	HUVEC	blood vessel
38	chr1:61908400-61910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:61908400-61910600	Enhancers	Colon Smooth Muscle	Colon
40	chr1:61908400-61912600	Enhancers	Fetal Heart	heart
41	chr1:61908600-61910000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr1:61908600-61911200	Enhancers	Right Atrium	heart
43	chr1:61908800-61910200	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:61908800-61910800	Enhancers	Fetal Stomach	stomach
45	chr1:61908800-61910800	Enhancers	Rectal Smooth Muscle	rectum
46	chr1:61908800-61911000	Enhancers	Fetal Kidney	kidney
47	chr1:61909000-61910200	Enhancers	Fetal Intestine Small	intestine
48	chr1:61909000-61910200	Enhancers	Small Intestine	intestine
49	chr1:61909000-61910400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:61909000-61910400	Enhancers	Duodenum Mucosa	Duodenum

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