Variant report

Variant	rs4373438
Chromosome Location	chr7:140026436-140026437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139874601..139875183-chr7:140025965..140026757,4	MCF-7	breast:
2	chr4:159133078..159133848-chr7:140025763..140026547,2	MCF-7	breast:
3	chr7:139758879..139760781-chr7:140025827..140028156,2	K562	blood:
4	chr7:139913458..139914064-chr7:140026145..140026855,2	K562	blood:
5	chr7:139874264..139875531-chr7:140025860..140026775,5	K562	blood:
6	chr7:139705358..139706253-chr7:140025500..140026651,4	K562	blood:
7	chr3:13503033..13503787-chr7:140025782..140026717,2	MCF-7	breast:
8	chr7:139778501..139779573-chr7:140025840..140026699,4	MCF-7	breast:
9	chr7:140024951..140026986-chr7:140033594..140036380,2	K562	blood:
10	chr7:139705364..139706338-chr7:140025755..140026704,5	MCF-7	breast:
11	chr7:139929869..139932027-chr7:140025336..140027515,3	MCF-7	breast:
12	chr7:139703443..139703966-chr7:140025822..140026642,2	MCF-7	breast:
13	chr7:139874914..139875818-chr7:140025450..140026669,4	MCF-7	breast:
14	chr7:139875688..139878782-chr7:140020537..140027140,7	K562	blood:
15	chr7:139997065..139997701-chr7:140025856..140026716,5	MCF-7	breast:
16	chr7:140024916..140027848-chr7:140096767..140099113,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006459	Chromatin interaction
ENSG00000157800	Chromatin interaction
ENSG00000260231	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10246187	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35182343	0.82[ASN][1000 genomes]
rs55772608	0.81[ASN][1000 genomes]
rs7805875	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4373438	SLC37A3	cis	cerebellum	SCAN
rs4373438	TAS2R38	cis	parietal	SCAN
rs4373438	AGK	cis	cerebellum	SCAN
rs4373438	CHRM2	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140016200-140034000	Weak transcription	Pancreas	Pancrea
2	chr7:140016800-140034200	Weak transcription	Small Intestine	intestine
3	chr7:140017000-140033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:140017200-140032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:140017600-140033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:140017600-140034000	Weak transcription	HMEC	breast
7	chr7:140022800-140030400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:140023800-140033800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:140024000-140048800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:140024800-140026600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:140025600-140026600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:140025600-140026600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:140025600-140026600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:140025600-140026600	Enhancers	Stomach Mucosa	stomach
15	chr7:140025600-140026600	Flanking Active TSS	HepG2	liver
16	chr7:140025800-140026600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:140025800-140026600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:140025800-140026600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:140025800-140026600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:140025800-140026600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:140025800-140026600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:140025800-140026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:140025800-140026600	Enhancers	Liver	Liver
24	chr7:140025800-140026600	Enhancers	Fetal Muscle Leg	muscle
25	chr7:140025800-140026600	Enhancers	Fetal Thymus	thymus
26	chr7:140025800-140026600	Enhancers	Left Ventricle	heart
27	chr7:140025800-140026600	Enhancers	Ovary	ovary
28	chr7:140025800-140026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:140026000-140026600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:140026000-140026600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:140026000-140026600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:140026000-140033800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:140026000-140033800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:140026000-140034400	Weak transcription	Gastric	stomach
35	chr7:140026000-140040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:140026000-140040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:140026200-140026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:140026200-140026600	Enhancers	Adipose Nuclei	Adipose
39	chr7:140026200-140026600	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:140026200-140026600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:140026200-140026600	Enhancers	Colon Smooth Muscle	Colon
42	chr7:140026200-140026600	Enhancers	K562	blood
43	chr7:140026200-140026600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr7:140026200-140027200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:140026200-140027800	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:140026200-140027800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr7:140026200-140030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:140026200-140030600	Weak transcription	Brain Germinal Matrix	brain
49	chr7:140026200-140031600	Weak transcription	Fetal Stomach	stomach
50	chr7:140026200-140032800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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