Variant report

Variant	rs10770187
Chromosome Location	chr12:122362316-122362317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122277581..122279588-chr12:122359904..122362557,2	K562	blood:
2	chr12:122232615..122235866-chr12:122360663..122363500,3	K562	blood:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11043241	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11043242	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7314989	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3449559	chr12:122362248-122362692	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10770187	BCL7A	cis	Muscle Skeletal	GTEx
rs10770187	HPD	cis	Muscle Skeletal	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122354200-122363000	Weak transcription	Small Intestine	intestine
2	chr12:122355600-122364800	Weak transcription	K562	blood
3	chr12:122356000-122362600	Weak transcription	Hela-S3	cervix
4	chr12:122356400-122362600	Weak transcription	Ovary	ovary
5	chr12:122356400-122362600	Weak transcription	HMEC	breast
6	chr12:122356400-122363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:122356600-122362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122356600-122362800	Weak transcription	HSMMtube	muscle
9	chr12:122356800-122362600	Weak transcription	Fetal Heart	heart
10	chr12:122356800-122362800	Weak transcription	Left Ventricle	heart
11	chr12:122356800-122362800	Weak transcription	HSMM	muscle
12	chr12:122356800-122363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:122357000-122362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:122357000-122362600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:122357000-122362600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:122357000-122362600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:122357000-122362600	Weak transcription	Fetal Brain Male	brain
18	chr12:122357000-122362600	Weak transcription	Fetal Brain Female	brain
19	chr12:122357000-122362600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:122357000-122362600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:122357000-122362600	Weak transcription	Fetal Stomach	stomach
22	chr12:122357000-122362600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:122357000-122362600	Weak transcription	Right Ventricle	heart
24	chr12:122357000-122362600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:122357000-122362600	Weak transcription	Spleen	Spleen
26	chr12:122357000-122362600	Weak transcription	NH-A	brain
27	chr12:122357000-122362800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:122357000-122362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:122357000-122362800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:122357000-122362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:122357000-122362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:122357000-122362800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:122357000-122362800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:122357000-122362800	Weak transcription	Fetal Thymus	thymus
35	chr12:122357000-122363000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:122357000-122363000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:122357000-122363000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:122357000-122363000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:122357000-122370200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:122357000-122370600	Weak transcription	Aorta	Aorta
41	chr12:122357000-122380400	Weak transcription	Gastric	stomach
42	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
43	chr12:122357400-122362600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:122357400-122362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:122357400-122362800	Weak transcription	Brain Angular Gyrus	brain
46	chr12:122357600-122362600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:122357600-122362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:122357600-122362600	Weak transcription	Fetal Kidney	kidney
49	chr12:122357600-122362800	Weak transcription	NHLF	lung
50	chr12:122359600-122364600	Weak transcription	Monocytes-CD14+_RO01746	blood

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