Variant report

Variant	rs6749250
Chromosome Location	chr2:31027131-31027132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:31020133..31021704-chr2:31026815..31029517,2	K562	blood:
2	chr2:31026243..31028082-chr2:31031937..31034757,2	MCF-7	breast:
3	chr2:31022464..31025288-chr2:31025313..31027644,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17010338	1.00[AMR][1000 genomes]
rs6728039	0.83[AMR][1000 genomes]
rs6734715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6740888	1.00[AMR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833659	chr2:31020572-31171505	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv275432	chr2:31023062-31027510	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31020600-31029200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:31020800-31030600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:31021800-31029200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:31022200-31029200	Weak transcription	Fetal Stomach	stomach
5	chr2:31022400-31029600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:31022400-31029800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:31022600-31029000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:31022600-31030400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:31025200-31029600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:31025200-31032200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:31025600-31028800	Enhancers	Gastric	stomach
12	chr2:31026000-31027200	Enhancers	Brain Anterior Caudate	brain
13	chr2:31026000-31027200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:31026000-31027600	Enhancers	Brain Hippocampus Middle	brain
15	chr2:31026000-31028200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:31026200-31027400	Enhancers	Adipose Nuclei	Adipose
17	chr2:31026200-31028000	Enhancers	Brain Angular Gyrus	brain
18	chr2:31026400-31027200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:31026600-31029200	Enhancers	Stomach Mucosa	stomach
20	chr2:31026600-31030000	Weak transcription	Pancreas	Pancrea
21	chr2:31026800-31028000	Weak transcription	Esophagus	oesophagus
22	chr2:31026800-31028200	Enhancers	Brain Substantia Nigra	brain

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