Variant report

Variant	rs12500344
Chromosome Location	chr4:147163920-147163921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:146857394..146859298-chr4:147163388..147165123,2	MCF-7	breast:
2	chr4:147096162..147099903-chr4:147161380..147165203,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164167	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1036016	0.87[ASN][1000 genomes]
rs11724732	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021282	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60175110	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147158000-147164400	Weak transcription	Lung	lung
2	chr4:147160600-147164400	Weak transcription	Spleen	Spleen
3	chr4:147162200-147164000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:147162200-147164600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:147162200-147164600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:147162200-147167400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:147162200-147167600	Enhancers	Fetal Lung	lung
8	chr4:147162200-147167600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:147162400-147164800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:147162400-147165400	Enhancers	GM12878-XiMat	blood
11	chr4:147162600-147164600	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:147162600-147165000	Enhancers	Fetal Stomach	stomach
13	chr4:147162600-147167000	Enhancers	Placenta	Placenta
14	chr4:147162800-147164000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:147162800-147164000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr4:147162800-147164000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr4:147162800-147164400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:147162800-147165200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:147163000-147164400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:147163200-147164000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:147163200-147164200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:147163200-147164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:147163200-147164400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:147163200-147164400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:147163200-147164400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:147163200-147164400	Enhancers	NHEK	skin
27	chr4:147163200-147164600	Enhancers	NH-A	brain
28	chr4:147163200-147165000	Enhancers	HMEC	breast
29	chr4:147163200-147165400	Enhancers	Small Intestine	intestine
30	chr4:147163200-147166400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:147163200-147178000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr4:147163400-147164000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr4:147163400-147164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:147163400-147164600	Enhancers	NHDF-Ad	bronchial
35	chr4:147163400-147164800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:147163400-147165000	Enhancers	Left Ventricle	heart
37	chr4:147163400-147165200	Enhancers	Gastric	stomach
38	chr4:147163400-147166200	Enhancers	Right Ventricle	heart
39	chr4:147163600-147164000	Active TSS	Ovary	ovary
40	chr4:147163600-147164400	Weak transcription	Pancreas	Pancrea
41	chr4:147163600-147164400	Weak transcription	Right Atrium	heart
42	chr4:147163600-147164600	Enhancers	Colonic Mucosa	Colon
43	chr4:147163600-147164800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:147163600-147164800	Enhancers	Duodenum Mucosa	Duodenum
45	chr4:147163600-147165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:147163600-147166200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:147163600-147167200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:147163600-147167200	Enhancers	Stomach Mucosa	stomach
49	chr4:147163800-147164200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:147163800-147164200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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