Variant report

Variant	rs62317923
Chromosome Location	chr4:129775350-129775351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129730562..129732301-chr4:129775269..129777728,2	K562	blood:
2	chr4:129766486..129769711-chr4:129773177..129777072,3	K562	blood:
3	chr4:129730556..129734953-chr4:129772085..129776071,5	K562	blood:
4	chr4:129774305..129776412-chr4:129777976..129779919,2	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62317924	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62317925	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv461637	chr4:129774375-129924977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv595397	chr4:129774375-129924977	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv461638	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv595398	chr4:129774375-129927804	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
5	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
6	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
7	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:129763000-129785800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:129763000-129787200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:129763200-129784000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:129763200-129784000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:129763400-129784200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:129763600-129777400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:129763600-129780400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr4:129763600-129786600	Strong transcription	Fetal Intestine Large	intestine
20	chr4:129763800-129776400	Strong transcription	Hela-S3	cervix
21	chr4:129763800-129776600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr4:129763800-129780400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:129763800-129780400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:129763800-129783400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:129763800-129784000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr4:129763800-129784200	Strong transcription	Brain Germinal Matrix	brain
27	chr4:129764000-129775400	Strong transcription	HUVEC	blood vessel
28	chr4:129764000-129784000	Strong transcription	Fetal Brain Female	brain
29	chr4:129764800-129779600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:129766600-129780200	Strong transcription	Adipose Nuclei	Adipose
31	chr4:129766600-129780200	Strong transcription	Lung	lung
32	chr4:129766600-129783400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:129766600-129784200	Strong transcription	HepG2	liver
34	chr4:129766800-129779400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr4:129767200-129784400	Strong transcription	Aorta	Aorta
36	chr4:129767400-129775400	Strong transcription	Brain Substantia Nigra	brain
37	chr4:129767400-129783800	Strong transcription	Brain Angular Gyrus	brain
38	chr4:129767400-129784000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:129767600-129779400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr4:129767600-129780200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:129767800-129784200	Strong transcription	Liver	Liver
42	chr4:129768000-129780400	Strong transcription	Gastric	stomach
43	chr4:129768000-129784000	Strong transcription	Brain Anterior Caudate	brain
44	chr4:129768200-129775400	Strong transcription	Fetal Lung	lung
45	chr4:129768200-129776400	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:129768600-129776800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:129768600-129784000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:129768800-129775400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr4:129768800-129775600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:129768800-129778800	Weak transcription	Psoas Muscle	Psoas

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