Variant report

Variant	rs2175640
Chromosome Location	chr4:76638905-76638906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76633806..76638911-chr4:76639388..76643502,4	K562	blood:
2	chr4:76638278..76640876-chr4:76648075..76651719,4	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10031352	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11727895	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11732850	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11734358	0.85[ASN][1000 genomes]
rs12508200	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12508992	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13137229	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16996019	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17000786	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs186563	0.84[ASN][1000 genomes]
rs28573275	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28680723	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324686	0.84[ASN][1000 genomes]
rs324688	0.84[ASN][1000 genomes]
rs324690	0.84[ASN][1000 genomes]
rs324691	0.84[ASN][1000 genomes]
rs324693	0.84[ASN][1000 genomes]
rs324696	0.84[ASN][1000 genomes]
rs324697	0.84[ASN][1000 genomes]
rs324698	0.84[ASN][1000 genomes]
rs324700	0.84[ASN][1000 genomes]
rs324701	0.84[ASN][1000 genomes]
rs324703	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324709	0.82[EUR][1000 genomes]
rs324712	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324713	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324719	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324722	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324723	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324727	0.84[ASN][1000 genomes]
rs324730	0.84[ASN][1000 genomes]
rs324731	0.84[ASN][1000 genomes]
rs324733	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324735	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs324738	0.80[ASN][1000 genomes]
rs324740	0.84[ASN][1000 genomes]
rs4262008	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6827016	0.84[ASN][1000 genomes]
rs6834747	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7657198	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7663617	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7684778	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7693127	0.84[EUR][1000 genomes];0.84[ASN][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76599200-76640000	Weak transcription	Aorta	Aorta
2	chr4:76599600-76639800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:76599600-76639800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:76599600-76639800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:76599600-76647600	Weak transcription	Fetal Brain Female	brain
6	chr4:76600400-76640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:76607400-76640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:76613800-76639000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:76613800-76639600	Weak transcription	Ovary	ovary
10	chr4:76615600-76639800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:76615600-76639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:76615800-76639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:76616000-76640000	Weak transcription	Lung	lung
14	chr4:76618400-76639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:76620000-76640000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:76620400-76639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:76620600-76640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:76621000-76640600	Weak transcription	Right Ventricle	heart
19	chr4:76621800-76642400	Weak transcription	Left Ventricle	heart
20	chr4:76622000-76639400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:76622200-76639800	Weak transcription	HSMMtube	muscle
22	chr4:76623800-76647600	Weak transcription	Fetal Heart	heart
23	chr4:76624200-76640600	Weak transcription	Fetal Thymus	thymus
24	chr4:76624400-76647200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:76624400-76647800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:76624600-76646800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:76624800-76647600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr4:76628000-76639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:76628400-76639600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:76628600-76640000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:76628800-76642200	Weak transcription	Fetal Stomach	stomach
32	chr4:76629200-76640000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:76629200-76640400	Weak transcription	HepG2	liver
34	chr4:76629400-76640000	Weak transcription	Fetal Lung	lung
35	chr4:76631000-76639600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:76631000-76642000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:76631000-76643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:76631000-76648800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:76631600-76648000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:76631800-76639800	Weak transcription	Osteobl	bone
41	chr4:76632200-76640200	Weak transcription	NH-A	brain
42	chr4:76633600-76639800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:76633600-76641000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:76633600-76642200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:76633600-76642600	Weak transcription	Fetal Intestine Large	intestine
46	chr4:76633600-76643800	Weak transcription	Primary T cells from cord blood	blood
47	chr4:76633600-76647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:76633600-76648200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:76633800-76640000	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:76633800-76640600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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