Variant report

Variant	rs13148226
Chromosome Location	chr4:7829982-7829983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7822325..7825462-chr4:7828397..7830973,3	K562	blood:
2	chr4:7828803..7835270-chr4:7836618..7840776,8	K562	blood:
3	chr4:7828718..7832914-chr4:7842245..7845071,3	K562	blood:
4	chr4:7822325..7824045-chr4:7827904..7830215,2	K562	blood:
5	chr4:7825242..7828581-chr4:7828624..7832177,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SORCS2-3	chr4:7824831-7831552	refGeneNc_1113_NR_026892

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28575363	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446626	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685914	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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	18 gene(s)	inside rSNPs	diseases
6	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv522369	chr4:7826824-7831977	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7808600-7830000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:7818000-7830000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7819800-7834400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:7821000-7830400	Weak transcription	Esophagus	oesophagus
5	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
6	chr4:7823800-7830200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7824600-7834600	Genic enhancers	HUVEC	blood vessel
8	chr4:7825400-7839400	Weak transcription	Pancreas	Pancrea
9	chr4:7825600-7830000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:7825600-7830400	Weak transcription	Small Intestine	intestine
11	chr4:7825600-7830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:7825600-7830800	Weak transcription	Psoas Muscle	Psoas
13	chr4:7825600-7852200	Weak transcription	Gastric	stomach
14	chr4:7825800-7830200	Weak transcription	Fetal Brain Male	brain
15	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:7826000-7846000	Weak transcription	Stomach Mucosa	stomach
17	chr4:7826400-7833600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:7826600-7830200	Weak transcription	Brain Anterior Caudate	brain
19	chr4:7826600-7842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:7826800-7831200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:7827000-7831400	Weak transcription	HepG2	liver
22	chr4:7827600-7832400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr4:7827800-7830800	Enhancers	Placenta	Placenta
24	chr4:7827800-7831000	Genic enhancers	Fetal Stomach	stomach
25	chr4:7828000-7830200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:7828000-7830400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr4:7828000-7830600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:7828000-7832400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:7828200-7830200	Strong transcription	A549	lung
30	chr4:7828200-7831000	Strong transcription	Brain Germinal Matrix	brain
31	chr4:7828600-7830200	Weak transcription	Colonic Mucosa	Colon
32	chr4:7828800-7830800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:7828800-7833000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:7828800-7833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:7829000-7834200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr4:7829200-7833400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:7829400-7830000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:7829400-7830200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:7829400-7830400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:7829400-7830400	Enhancers	Right Ventricle	heart
41	chr4:7829400-7830400	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr4:7829400-7830600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:7829400-7830600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:7829400-7830600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:7829400-7830600	Genic enhancers	Adipose Nuclei	Adipose
46	chr4:7829400-7830600	Genic enhancers	Colon Smooth Muscle	Colon
47	chr4:7829400-7830600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:7829400-7830600	Enhancers	Fetal Thymus	thymus
49	chr4:7829400-7830800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:7829400-7830800	Enhancers	Brain Angular Gyrus	brain

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