Variant report

Variant	rs6840624
Chromosome Location	chr4:57841767-57841768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:
2	chr4:57822641..57828782-chr4:57838494..57846737,10	K562	blood:
3	chr4:57826815..57829812-chr4:57841300..57844628,3	MCF-7	breast:
4	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
5	chr4:56211110..56213027-chr4:57841438..57843848,2	K562	blood:

Variant related genes	Relation type
ENSG00000269949	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11936328	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1277275	0.84[ASN][1000 genomes]
rs1708788	0.84[EUR][1000 genomes]
rs1713992	0.84[EUR][1000 genomes]
rs62310289	0.84[EUR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57827000-57843200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:57835400-57842000	Strong transcription	Fetal Stomach	stomach
5	chr4:57837000-57842200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:57839400-57842000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:57839800-57842400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:57840000-57842000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:57840000-57842000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:57840000-57842000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:57840000-57842000	Weak transcription	HSMMtube	muscle
12	chr4:57840000-57842400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:57840000-57842400	Weak transcription	Aorta	Aorta
14	chr4:57840200-57842000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:57840200-57842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:57840200-57842000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:57840200-57842000	Weak transcription	Fetal Heart	heart
18	chr4:57840200-57842000	Weak transcription	Fetal Kidney	kidney
19	chr4:57840200-57842000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:57840200-57842000	Weak transcription	A549	lung
21	chr4:57840200-57842000	Weak transcription	HSMM	muscle
22	chr4:57840200-57842000	Weak transcription	NHDF-Ad	bronchial
23	chr4:57840200-57842000	Weak transcription	Osteobl	bone
24	chr4:57840400-57841800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:57840400-57842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:57840400-57842000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:57840400-57842000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr4:57840400-57842200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:57840400-57842200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:57840400-57842800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr4:57840600-57841800	Enhancers	Gastric	stomach
32	chr4:57840600-57842000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:57840600-57842000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:57840600-57842000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:57840600-57842000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:57840600-57842000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:57840600-57842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:57840600-57842000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:57840600-57842000	Enhancers	Pancreas	Pancrea
40	chr4:57840600-57842000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:57840600-57842000	Enhancers	Right Atrium	heart
42	chr4:57840600-57842000	Weak transcription	NH-A	brain
43	chr4:57840600-57842200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:57840800-57842000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:57840800-57842000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr4:57840800-57842000	Enhancers	Lung	lung
47	chr4:57840800-57842200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:57840800-57843600	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr4:57840800-57846800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr4:57841000-57841800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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