Variant report

Variant	rs2678302
Chromosome Location	chr2:153400193-153400194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr2:153399043-153400311	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:153399092-153400328	U87	brain:	n/a	n/a
3	JUND	chr2:153398999-153400306	SK-N-SH	brain:	n/a	chr2:153400286-153400295 chr2:153399569-153399577
4	POLR2A	chr2:153399228-153400502	IMR90	lung:	n/a	n/a
5	GATA3	chr2:153399004-153400210	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr2:153399092-153400322	U87	brain:	n/a	n/a
7	TCF12	chr2:153398931-153400306	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:
2	chr2:153398875..153400622-chr2:153402509..153405231,2	MCF-7	breast:
3	chr2:153400047..153401814-chr2:153483304..153486097,2	MCF-7	breast:
4	chr2:153398378..153401093-chr2:153404602..153406288,2	K562	blood:
5	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

Variant related genes	Relation type
ENSG00000270776	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1155778	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1529998	0.95[ASN][1000 genomes]
rs16831263	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2577175	0.95[ASN][1000 genomes]
rs2577177	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2577178	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2678294	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678296	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678298	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4664594	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56281840	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6709843	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6713711	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6739300	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739557	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72868235	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579511	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
2	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
3	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
5	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
7	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
8	chr2:153397600-153400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:153397600-153400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:153398000-153400200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153398000-153402800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153398200-153400400	Enhancers	HMEC	breast
14	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
15	chr2:153398400-153400200	Enhancers	Stomach Mucosa	stomach
16	chr2:153398400-153400400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:153398400-153400600	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:153398400-153400600	Enhancers	NHDF-Ad	bronchial
19	chr2:153398400-153402400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:153398400-153403400	Enhancers	Ovary	ovary
21	chr2:153398400-153405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:153398600-153400200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:153398600-153400200	Enhancers	Fetal Stomach	stomach
24	chr2:153398600-153400200	Enhancers	HSMMtube	muscle
25	chr2:153398600-153400800	Enhancers	HSMM	muscle
26	chr2:153398600-153402400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:153398600-153404000	Weak transcription	Gastric	stomach
28	chr2:153398800-153400200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:153398800-153400200	Genic enhancers	Placenta	Placenta
30	chr2:153398800-153400600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:153398800-153400600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:153398800-153400600	Enhancers	NHLF	lung
33	chr2:153398800-153401600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:153398800-153406200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:153399000-153400200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:153399000-153400200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:153399000-153400200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:153399000-153400200	Enhancers	Colon Smooth Muscle	Colon
39	chr2:153399000-153400600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:153399000-153400600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:153399000-153400600	Genic enhancers	NHEK	skin
42	chr2:153399000-153402400	Weak transcription	Lung	lung
43	chr2:153399000-153405200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:153399200-153400400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:153399200-153407800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:153399400-153400200	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:153399400-153400600	Strong transcription	Adipose Nuclei	Adipose
49	chr2:153399400-153400600	Genic enhancers	HepG2	liver
50	chr2:153399400-153403200	Enhancers	Brain Substantia Nigra	brain

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