Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:100541883..100543841-chr4:100866288..100868388,2	K562	blood:
2	chr4:100538079..100540752-chr4:100541523..100543653,2	K562	blood:
3	chr4:100541785..100543841-chr4:100866888..100869744,2	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10516447	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs1491237	1.00[AFR][1000 genomes]
rs1491245	1.00[AFR][1000 genomes]
rs1491246	1.00[AFR][1000 genomes]
rs17533020	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17533489	0.94[AFR][1000 genomes]
rs17533517	0.94[AFR][1000 genomes]
rs2035814	0.94[AFR][1000 genomes]
rs2035815	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2903202	0.94[AFR][1000 genomes]
rs41275715	1.00[AFR][1000 genomes]
rs6532823	1.00[AFR][1000 genomes]
rs6832119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6832927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842339	1.00[CEU][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6844547	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6845301	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs745074	1.00[AFR][1000 genomes]
rs745075	1.00[AFR][1000 genomes]
rs7668586	1.00[AFR][1000 genomes]
rs7693865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7698547	1.00[AFR][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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100516400-100546200	Strong transcription	Liver	Liver
2	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:100522600-100545800	Strong transcription	Fetal Intestine Large	intestine
4	chr4:100532800-100545200	Weak transcription	Aorta	Aorta
5	chr4:100534800-100545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100536800-100545200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:100537000-100543400	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:100537600-100543400	Weak transcription	Psoas Muscle	Psoas
9	chr4:100537600-100544200	Strong transcription	HepG2	liver
10	chr4:100538200-100556000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:100539400-100545200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:100539800-100544200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:100541000-100544200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:100541800-100542200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:100541800-100544000	Strong transcription	Fetal Intestine Small	intestine
16	chr4:100541800-100547200	Weak transcription	Small Intestine	intestine
17	chr4:100542000-100542400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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