Variant report

Variant	rs2847342
Chromosome Location	chr1:10451078-10451079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10449520..10451785-chr1:10471449..10473119,2	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1300645	1.00[CEU][hapmap]
rs1300646	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2765552	0.83[AMR][1000 genomes];0.93[EUR][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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
7	nsv8213	chr1:10450914-10460439	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
2	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10440000-10458400	Weak transcription	Lung	lung
5	chr1:10444800-10458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:10445600-10454000	Weak transcription	Fetal Brain Female	brain
7	chr1:10447800-10454000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:10447800-10458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:10448200-10452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:10448200-10454200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:10448200-10458200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:10448200-10458200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:10448200-10458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:10448400-10454400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:10448600-10451200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:10448600-10453800	Weak transcription	Fetal Stomach	stomach
17	chr1:10448600-10454200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:10448600-10454800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:10448600-10458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:10448600-10458200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:10448600-10458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:10448600-10458400	Weak transcription	HSMM	muscle
23	chr1:10448800-10453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:10448800-10458200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:10448800-10458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:10448800-10458200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:10448800-10458200	Weak transcription	HUVEC	blood vessel
28	chr1:10448800-10458200	Weak transcription	NH-A	brain
29	chr1:10448800-10458200	Weak transcription	NHEK	skin
30	chr1:10449000-10451800	Enhancers	Primary B cells from cord blood	blood
31	chr1:10449000-10452600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:10449000-10453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:10449000-10454000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:10449000-10458200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:10449000-10458200	Weak transcription	Brain Anterior Caudate	brain
36	chr1:10449000-10458200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:10449000-10458200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:10449000-10458200	Weak transcription	Thymus	Thymus
39	chr1:10449000-10458200	Weak transcription	HSMMtube	muscle
40	chr1:10449200-10458200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:10449200-10458200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:10449200-10458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:10449600-10454000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:10449600-10457400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:10449600-10458200	Weak transcription	Esophagus	oesophagus
46	chr1:10449600-10458200	Weak transcription	Pancreas	Pancrea
47	chr1:10449600-10458200	Weak transcription	Hela-S3	cervix
48	chr1:10449800-10453800	Weak transcription	Fetal Intestine Small	intestine
49	chr1:10449800-10454000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:10450000-10454000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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