Variant report

Variant	rs3130378
Chromosome Location	chr6:30323895-30323896
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30318532..30322622-chr6:30323241..30327325,5	K562	blood:
2	chr6:30299130..30300961-chr6:30321586..30324149,2	MCF-7	breast:
3	chr6:30323144..30325675-chr6:30329322..30331763,2	K562	blood:
4	chr6:30322834..30325088-chr6:30341151..30343216,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224372	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1245218	0.91[AMR][1000 genomes]
rs3094055	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3130379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30313800-30325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:30314000-30324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:30314000-30325600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:30314200-30325600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:30314200-30325600	Weak transcription	Psoas Muscle	Psoas
6	chr6:30314400-30325000	Weak transcription	Esophagus	oesophagus
7	chr6:30314400-30325400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:30314600-30325600	Weak transcription	Pancreas	Pancrea
9	chr6:30315000-30325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:30315000-30325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:30315000-30325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:30315000-30325600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:30315600-30324400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:30315600-30325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:30315600-30325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:30315800-30324200	Weak transcription	Fetal Intestine Large	intestine
17	chr6:30316000-30325600	Weak transcription	Brain Angular Gyrus	brain
18	chr6:30316200-30324400	Weak transcription	Fetal Intestine Small	intestine
19	chr6:30316200-30325800	Weak transcription	Gastric	stomach
20	chr6:30316600-30324200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:30323400-30324200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:30323400-30324400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:30323400-30324400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:30323600-30324000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:30323600-30324200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:30323600-30325600	Weak transcription	Aorta	Aorta

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