Variant report

Variant	rs11910005
Chromosome Location	chr21:37703337-37703338
allele	A/G
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	RAD21	chr21:37703266-37703507	K562	blood:	n/a	chr21:37703394-37703413
2	CTCF	chr21:37703294-37703511	ProgFib	skin:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
3	CTCF	chr21:37703320-37703470	AG04449	skin:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
4	MYC	chr21:37703240-37703552	K562	blood:	n/a	chr21:37703412-37703423
5	CTCF	chr21:37703241-37703587	K562	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
6	CTCF	chr21:37703303-37703506	GM12892	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
7	RAD21	chr21:37703158-37703674	MCF-7	breast:	n/a	chr21:37703394-37703413
8	MAX	chr21:37703318-37703435	H1-hESC	embryonic stem cell:	n/a	chr21:37703412-37703423
9	SMC3	chr21:37703207-37703579	HepG2	liver:	n/a	chr21:37703398-37703412
10	SMC3	chr21:37703202-37703588	K562	blood:	n/a	chr21:37703398-37703412
11	RAD21	chr21:37703202-37703555	K562	blood:	n/a	chr21:37703394-37703413
12	RAD21	chr21:37703151-37703623	ECC-1	luminal epithelium:	n/a	chr21:37703394-37703413
13	CTCF	chr21:37703320-37703470	GM12872	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
14	RAD21	chr21:37703191-37703587	H1-hESC	embryonic stem cell:	n/a	chr21:37703394-37703413
15	MYC	chr21:37703226-37703449	MCF10A-Er-Src	breast:	n/a	chr21:37703412-37703423
16	CTCF	chr21:37703280-37703536	Pancreas_OC	pancreas:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
17	ZNF143	chr21:37703245-37703549	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr21:37703280-37703533	GM10266	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
19	CTCF	chr21:37703248-37703552	K562	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
20	CTCF	chr21:37703325-37703483	MCF-7	breast:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
21	RAD21	chr21:37703120-37703598	Hela-S3	cervix:	n/a	chr21:37703394-37703413
22	CTCF	chr21:37703320-37703470	A549	lung:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
23	CTCF	chr21:37703248-37703551	GM12878	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
24	ZNF384	chr21:37703234-37703541	K562	blood:	n/a	n/a
25	CTCF	chr21:37703298-37703532	GM13977	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
26	CTCF	chr21:37703320-37703470	GM12869	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
27	CTCF	chr21:37703300-37703450	GM12866	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
28	CTCF	chr21:37703271-37703496	A549	lung:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
29	CTCF	chr21:37703320-37703470	GM12873	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
30	RAD21	chr21:37703177-37703561	SK-N-SH_RA	brain:	n/a	chr21:37703394-37703413
31	CTCF	chr21:37703300-37703450	HMF	breast:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
32	CTCF	chr21:37703067-37703592	HCT-116	colon:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
33	CTCF	chr21:37703293-37703523	Fibrobl	skin:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
34	USF2	chr21:37703023-37703540	K562	blood:	n/a	chr21:37703412-37703423 chr21:37703407-37703428 chr21:37703411-37703424
35	CTCF	chr21:37703300-37703590	HFF	foreskin:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
36	CTCF	chr21:37703320-37703470	AG09319	gingival:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
37	CTCF	chr21:37703302-37703524	LNCaP	prostate:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
38	USF1	chr21:37703181-37703501	H1-hESC	embryonic stem cell:	n/a	chr21:37703407-37703428 chr21:37703411-37703424
39	CTCF	chr21:37703307-37703502	GM19240	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
40	CTCF	chr21:37703320-37703470	GM12867	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
41	CTCF	chr21:37703320-37703470	Hela-S3	cervix:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
42	CTCF	chr21:37703282-37703551	Lung_OC	lung:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
43	CTCF	chr21:37703312-37703498	GM13976	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
44	CTCF	chr21:37703300-37703450	BE2_C	brain:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
45	CTCF	chr21:37703320-37703470	AG10803	skin:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
46	RAD21	chr21:37703148-37703621	HepG2	liver:	n/a	chr21:37703394-37703413
47	CTCF	chr21:37703298-37703507	A549	lung:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
48	POLR2A	chr21:37703067-37703458	K562	blood:	n/a	n/a
49	CTCF	chr21:37703300-37703450	GM12875	blood:	n/a	chr21:37703396-37703414 chr21:37703391-37703412
50	CTCF	chr21:37703262-37703455	SK-N-SH_RA	brain:	n/a	chr21:37703396-37703414 chr21:37703391-37703412

No.	Distal block	Cell Line	Cell type
1	chr21:37702058..37705008-chr21:37709120..37710689,2	K562	blood:
2	chr21:37702753..37705009-chr21:37714736..37717408,2	K562	blood:
3	chr21:37618009..37618514-chr21:37702949..37703771,2	MCF-7	breast:
4	chr21:37690897..37695461-chr21:37701805..37709412,12	MCF-7	breast:
5	chr21:37672869..37674630-chr21:37702308..37704067,2	MCF-7	breast:
6	chr21:37696119..37698828-chr21:37701284..37703538,3	MCF-7	breast:
7	chr21:37525256..37525795-chr21:37702931..37703589,2	MCF-7	breast:
8	chr21:37507174..37508872-chr21:37701862..37704227,2	MCF-7	breast:

Variant related genes	Relation type
MORC3	TF binding region
ENSG00000159256	Chromatin interaction
ENSG00000159231	Chromatin interaction
ENSG00000273199	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10483033	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11909470	1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16993929	1.00[CHB][hapmap]
rs16994069	1.00[EUR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs3746867	1.00[CHB][hapmap]
rs57154050	1.00[EUR][1000 genomes]
rs59261999	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs61094968	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278340	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs73381587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383715	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383719	0.87[AFR][1000 genomes]
rs73383722	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][1000 genomes]
rs7354757	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37694200-37709600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:37694400-37709200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:37694400-37713000	Weak transcription	Esophagus	oesophagus
4	chr21:37694400-37713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:37694400-37718200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:37694600-37705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:37694600-37706200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:37694600-37709000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr21:37695000-37704400	Weak transcription	Aorta	Aorta
10	chr21:37695000-37706400	Weak transcription	Thymus	Thymus
11	chr21:37695000-37713800	Weak transcription	Fetal Brain Male	brain
12	chr21:37695800-37708800	Weak transcription	HSMMtube	muscle
13	chr21:37696000-37705400	Weak transcription	Dnd41	blood
14	chr21:37696000-37708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:37697400-37706200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:37697400-37710200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:37697600-37706800	Weak transcription	Placenta	Placenta
18	chr21:37697800-37705400	Weak transcription	Fetal Brain Female	brain
19	chr21:37697800-37706000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr21:37698000-37705400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:37698000-37706800	Weak transcription	Hela-S3	cervix
22	chr21:37698200-37704400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:37698200-37704600	Weak transcription	Fetal Lung	lung
24	chr21:37698200-37705400	Weak transcription	NHEK	skin
25	chr21:37698200-37705800	Enhancers	Liver	Liver
26	chr21:37698200-37708800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:37698400-37705400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr21:37698600-37704800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:37698600-37706400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:37699000-37705800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr21:37699000-37709200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:37699200-37707400	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr21:37699400-37703400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:37699600-37703400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:37700000-37703600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr21:37700200-37703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:37700400-37704600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr21:37700600-37705400	Weak transcription	Fetal Intestine Large	intestine
40	chr21:37700800-37704200	Weak transcription	Right Ventricle	heart
41	chr21:37701000-37703400	Genic enhancers	K562	blood
42	chr21:37701000-37703600	Enhancers	Primary B cells from cord blood	blood
43	chr21:37701200-37703400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:37701200-37703400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:37701200-37703600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr21:37701200-37706200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr21:37701200-37750600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:37701600-37703400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:37701600-37703400	Enhancers	Primary T cells from cord blood	blood
50	chr21:37701600-37703400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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