Variant report

Variant	rs4657618
Chromosome Location	chr1:158972490-158972491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158970577..158973262-chr1:158975751..158977296,2	K562	blood:

Variant related genes	Relation type
ENSG00000163565	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv1793882	chr1:158961777-158972490	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv548043	chr1:158963127-158972490	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4657618	SSR2	cis	parietal	SCAN
rs4657618	S100A8	cis	cerebellum	SCAN
rs4657618	ASH1L	cis	parietal	SCAN
rs4657618	ADAMTS4	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158960800-158975400	Weak transcription	Spleen	Spleen
2	chr1:158968600-158974800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:158968600-158977400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:158968800-158974800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:158968800-158975200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:158968800-158977000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:158969000-158975200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:158969000-158975200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:158969000-158977200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:158969000-158977400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:158969000-158978200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:158969800-158975400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:158970000-158974800	Weak transcription	Lung	lung
14	chr1:158970000-158978600	Weak transcription	Esophagus	oesophagus
15	chr1:158970200-158974800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:158970200-158974800	Weak transcription	Placenta	Placenta
17	chr1:158970200-158974800	Weak transcription	Left Ventricle	heart
18	chr1:158970200-158975400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:158970200-158978600	Weak transcription	Psoas Muscle	Psoas
20	chr1:158970200-158978800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:158970200-158979200	Weak transcription	Aorta	Aorta
22	chr1:158970400-158974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:158970600-158974800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:158970800-158974800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:158970800-158974800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:158970800-158975000	Weak transcription	Fetal Stomach	stomach
27	chr1:158970800-158975200	Weak transcription	Fetal Intestine Small	intestine
28	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
29	chr1:158971000-158975400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:158971000-158978400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:158971200-158972800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:158971200-158973400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:158971200-158974800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:158971200-158974800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:158971200-158974800	Weak transcription	Ovary	ovary
36	chr1:158971200-158975000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:158971200-158975000	Weak transcription	Right Atrium	heart
38	chr1:158971200-158975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:158971200-158975200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:158971200-158975200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:158971200-158975200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:158971200-158975400	Weak transcription	NHEK	skin
43	chr1:158971200-158978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:158971200-158978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:158971200-158978400	Weak transcription	HSMM	muscle
46	chr1:158971200-158978600	Weak transcription	Brain Angular Gyrus	brain
47	chr1:158971200-158978600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:158971200-158978800	Weak transcription	HSMMtube	muscle
49	chr1:158971400-158972800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:158971400-158972800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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