Variant report

Variant	rs9631754
Chromosome Location	chr4:148603552-148603553
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148578289..148581329-chr4:148601493..148604783,3	K562	blood:
2	chr4:148602322..148606656-chr4:148649854..148654389,6	MCF-7	breast:
3	chr4:148602747..148604694-chr4:148786468..148788057,2	MCF-7	breast:
4	chr4:148595149..148597630-chr4:148602026..148603997,2	K562	blood:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7673515	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	esv3329646	chr4:148590774-148611959	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
2	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
3	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:148558200-148603800	Weak transcription	A549	lung
8	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
9	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
11	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
12	chr4:148568400-148603800	Weak transcription	Fetal Kidney	kidney
13	chr4:148569400-148604000	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:148570400-148604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:148571600-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:148575600-148604000	Weak transcription	Brain Substantia Nigra	brain
17	chr4:148576400-148603800	Weak transcription	Small Intestine	intestine
18	chr4:148577000-148604400	Weak transcription	Aorta	Aorta
19	chr4:148577200-148604000	Weak transcription	Colonic Mucosa	Colon
20	chr4:148577400-148604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:148577600-148603800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:148577600-148603800	Weak transcription	Brain Anterior Caudate	brain
23	chr4:148577600-148604200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:148579600-148603800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:148579600-148603800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:148580000-148603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:148580000-148603800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:148581800-148604600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:148582800-148603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr4:148583400-148604000	Weak transcription	Fetal Heart	heart
31	chr4:148583800-148603800	Weak transcription	Ovary	ovary
32	chr4:148585800-148603800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:148585800-148603800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:148585800-148604400	Weak transcription	Left Ventricle	heart
35	chr4:148587200-148603800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:148589000-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:148589800-148603800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:148591400-148603800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:148593200-148603800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:148593400-148603800	Weak transcription	HSMM	muscle
41	chr4:148593400-148603800	Weak transcription	Osteobl	bone
42	chr4:148594600-148603800	Weak transcription	NHEK	skin
43	chr4:148596200-148603800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:148599600-148603800	Weak transcription	HMEC	breast
45	chr4:148599800-148604200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:148600000-148603800	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:148600000-148603800	Weak transcription	HSMMtube	muscle
48	chr4:148600000-148603800	Weak transcription	NH-A	brain
49	chr4:148600200-148603600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:148600200-148603600	Weak transcription	HepG2	liver

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