Variant report

Variant	rs60847941
Chromosome Location	chr12:122077371-122077372
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122016950..122018660-chr12:122076435..122078833,2	MCF-7	breast:
2	chr12:122076056..122078021-chr12:122078121..122080621,2	K562	blood:
3	chr12:121996145..121998555-chr12:122075230..122077949,2	MCF-7	breast:
4	chr12:122074129..122077638-chr12:122085849..122092224,5	K562	blood:
5	chr12:121974790..121978423-chr12:122074955..122077936,3	MCF-7	breast:
6	chr12:122076451..122078468-chr12:122230534..122232244,2	MCF-7	breast:
7	chr12:122064676..122068639-chr12:122074804..122077888,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000089094	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57271563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57306224	1.00[AMR][1000 genomes]
rs7952974	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974901	1.00[AMR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
2	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
3	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:122068200-122078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:122069400-122082200	Weak transcription	NHDF-Ad	bronchial
8	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
9	chr12:122070800-122081000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:122071200-122078000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:122071200-122078800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:122071200-122078800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:122071200-122078800	Weak transcription	Ovary	ovary
14	chr12:122071200-122078800	Weak transcription	NHLF	lung
15	chr12:122071200-122079200	Weak transcription	HUVEC	blood vessel
16	chr12:122071200-122087200	Weak transcription	Left Ventricle	heart
17	chr12:122071400-122078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:122071400-122078800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:122071400-122079000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:122071400-122079000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:122071400-122079000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:122071400-122079000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:122071400-122079000	Weak transcription	Small Intestine	intestine
24	chr12:122071400-122079400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:122071400-122079400	Weak transcription	Fetal Lung	lung
26	chr12:122071400-122081200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:122071400-122088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:122071400-122090200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:122071400-122095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:122071400-122096600	Weak transcription	Colonic Mucosa	Colon
31	chr12:122071400-122096600	Weak transcription	Right Atrium	heart
32	chr12:122071600-122078800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:122071600-122078800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:122071600-122078800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:122071600-122079000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:122071600-122079600	Weak transcription	Brain Substantia Nigra	brain
37	chr12:122073000-122089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:122073000-122091200	Strong transcription	Fetal Intestine Small	intestine
39	chr12:122073200-122078400	Weak transcription	Fetal Intestine Large	intestine
40	chr12:122073200-122079200	Weak transcription	Right Ventricle	heart
41	chr12:122073200-122080200	Weak transcription	HSMM	muscle
42	chr12:122073200-122082000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:122073200-122085600	Weak transcription	HSMMtube	muscle
44	chr12:122074200-122081800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:122075200-122079400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:122075400-122078800	Weak transcription	Esophagus	oesophagus
47	chr12:122075400-122079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:122075400-122082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:122075600-122078600	Enhancers	Fetal Thymus	thymus
50	chr12:122075600-122078600	Weak transcription	K562	blood

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