Variant report

Variant	rs11930350
Chromosome Location	chr4:106875765-106875766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:106875640-106875790	BE2_C	brain:	n/a	n/a
2	CTCF	chr4:106875620-106875770	AG09319	gingival:	n/a	n/a
3	RAD21	chr4:106875624-106875787	K562	blood:	n/a	n/a
4	CTCF	chr4:106875588-106875793	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:106875660-106875810	NHDF-neo	bronchial:	n/a	n/a
6	RAD21	chr4:106875562-106875813	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr4:106875383-106875983	MCF-7	breast:	n/a	n/a
8	RAD21	chr4:106875481-106875956	MCF-7	breast:	n/a	n/a
9	CTCF	chr4:106875720-106875870	HCM	heart:	n/a	n/a
10	RAD21	chr4:106875523-106875840	HepG2	liver:	n/a	n/a
11	CTCF	chr4:106875660-106875810	RPTEC	kidney:	n/a	n/a
12	RAD21	chr4:106875607-106875803	HepG2	liver:	n/a	n/a
13	CTCF	chr4:106875609-106875767	MCF-7	breast:	n/a	n/a
14	RAD21	chr4:106875541-106875913	HepG2	liver:	n/a	n/a
15	CTCF	chr4:106875680-106875830	NHEK	skin:	n/a	n/a
16	RAD21	chr4:106875568-106875825	HCT-116	colon:	n/a	n/a
17	CTCF	chr4:106875622-106875783	K562	blood:	n/a	n/a
18	RAD21	chr4:106875548-106875865	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr4:106875579-106875775	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr4:106875580-106875805	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr4:106875565-106875782	HepG2	liver:	n/a	n/a
22	CTCF	chr4:106875660-106875810	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:106875620-106875770	WERI-Rb-1	eye:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106875014..106877811-chr4:107237843..107240492,2	K562	blood:
2	chr4:106875672..106878254-chr4:106880438..106883058,3	K562	blood:
3	chr4:106875594..106876144-chr4:107122239..107122877,2	MCF-7	breast:

No data

Variant related genes	Relation type
NPNT	TF binding region
ENSG00000145348	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10029346	0.80[CEU][hapmap];0.86[YRI][hapmap]
rs10033065	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10856978	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12511099	1.00[EUR][1000 genomes]
rs13103583	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13107002	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13120676	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069092	0.82[YRI][hapmap]
rs28408688	0.80[AMR][1000 genomes]
rs28420290	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4074126	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4074127	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4074792	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4235416	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4264830	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4340795	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4380529	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4380530	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4394002	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4403054	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4443288	0.89[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4488941	0.98[EUR][1000 genomes]
rs4507363	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4511999	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4546247	0.88[EUR][1000 genomes]
rs4616757	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635819	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4643812	0.80[CEU][hapmap];0.91[YRI][hapmap]
rs4699202	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58168413	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533223	1.00[CEU][hapmap]
rs6826426	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6838274	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6855132	0.90[YRI][hapmap]
rs7669108	1.00[EUR][1000 genomes]
rs7673502	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677312	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7696538	0.89[CEU][hapmap];0.82[AMR][1000 genomes];1.00[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	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106831600-106878200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:106843600-106888400	Weak transcription	Pancreas	Pancrea
3	chr4:106853000-106879000	Weak transcription	Fetal Stomach	stomach
4	chr4:106854400-106886800	Weak transcription	GM12878-XiMat	blood
5	chr4:106864400-106877200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:106864600-106878200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:106864800-106886600	Weak transcription	Fetal Kidney	kidney
8	chr4:106866400-106884600	Weak transcription	HSMM	muscle
9	chr4:106867800-106884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:106868200-106877400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:106868200-106886600	Weak transcription	Fetal Lung	lung
12	chr4:106868400-106877400	Weak transcription	Fetal Heart	heart
13	chr4:106868400-106892000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:106872200-106879600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:106872200-106884600	Weak transcription	Aorta	Aorta
16	chr4:106872200-106888400	Weak transcription	Lung	lung
17	chr4:106872800-106877400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:106872800-106877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:106872800-106884600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:106873000-106888400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:106873800-106876200	Strong transcription	Fetal Intestine Large	intestine
22	chr4:106874200-106877400	Weak transcription	HSMMtube	muscle
23	chr4:106874400-106877400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:106875200-106875800	Enhancers	Psoas Muscle	Psoas

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