Variant report

Variant	rs531932378
Chromosome Location	chr20:1166557-1166558
allele	C/T
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	JUND	chr20:1166483-1166782	A549	lung:	n/a	n/a
2	MAX	chr20:1166459-1166701	K562	blood:	n/a	n/a
3	CTCF	chr20:1166500-1166650	HRPEpiC	eye:	n/a	chr20:1166567-1166585
4	CTCF	chr20:1166500-1166650	HPAF	blood vessel:	n/a	chr20:1166567-1166585
5	CTCF	chr20:1166466-1166742	SK-N-SH_RA	brain:	n/a	chr20:1166567-1166585
6	CHD2	chr20:1166473-1166742	HepG2	liver:	n/a	n/a
7	CTCF	chr20:1166520-1166670	HEK293	kidney:	n/a	chr20:1166567-1166585
8	CTCF	chr20:1166458-1166719	MCF-7	breast:	n/a	chr20:1166567-1166585
9	CTCF	chr20:1166480-1166681	Fibrobl	skin:	n/a	chr20:1166567-1166585
10	CTCF	chr20:1166540-1166690	GM12865	blood:	n/a	chr20:1166567-1166585
11	CTCF	chr20:1166476-1166690	A549	lung:	n/a	chr20:1166567-1166585
12	JUND	chr20:1166452-1166796	K562	blood:	n/a	n/a
13	ZMIZ1	chr20:1166508-1166688	K562	blood:	n/a	n/a
14	CTCF	chr20:1166453-1166734	K562	blood:	n/a	chr20:1166567-1166585
15	RAD21	chr20:1166451-1166721	MCF-7	breast:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
16	EP300	chr20:1166522-1166788	HepG2	liver:	n/a	n/a
17	RAD21	chr20:1166386-1166759	H1-hESC	embryonic stem cell:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
18	CTCF	chr20:1166540-1166690	GM12871	blood:	n/a	chr20:1166567-1166585
19	CTCF	chr20:1166460-1166610	GM12878	blood:	n/a	chr20:1166567-1166585
20	RAD21	chr20:1166457-1166711	SK-N-SH_RA	brain:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
21	TCF12	chr20:1166395-1166838	A549	lung:	n/a	n/a
22	CTCF	chr20:1166500-1166650	GM12875	blood:	n/a	chr20:1166567-1166585
23	RAD21	chr20:1166310-1166794	H1-hESC	embryonic stem cell:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
24	CTCF	chr20:1166483-1166681	ProgFib	skin:	n/a	chr20:1166567-1166585
25	CTCF	chr20:1166458-1166726	NHEK	skin:	n/a	chr20:1166567-1166585
26	CTCF	chr20:1166500-1166650	SAEC	small airway:	n/a	chr20:1166567-1166585
27	CTCF	chr20:1166500-1166650	HVMF	connective:	n/a	chr20:1166567-1166585
28	SMC3	chr20:1166498-1167049	HepG2	liver:	n/a	n/a
29	HCFC1	chr20:1166513-1166712	K562	blood:	n/a	n/a
30	ARID3A	chr20:1166469-1166713	K562	blood:	n/a	n/a
31	CTCF	chr20:1166501-1166664	GM20000	blood:	n/a	chr20:1166567-1166585
32	CTCF	chr20:1166500-1166650	HUVEC	blood vessel:	n/a	chr20:1166567-1166585
33	RAD21	chr20:1166452-1166676	GM12878	blood:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
34	CHD2	chr20:1166464-1166869	K562	blood:	n/a	n/a
35	CTCF	chr20:1166500-1166650	GM12865	blood:	n/a	chr20:1166567-1166585
36	POLR2A	chr20:1166451-1166669	K562	blood:	n/a	n/a
37	CTCF	chr20:1166481-1166683	HepG2	liver:	n/a	chr20:1166567-1166585
38	CTCF	chr20:1166455-1166758	H1-hESC	embryonic stem cell:	n/a	chr20:1166567-1166585
39	CTCF	chr20:1166520-1166670	AoAF	blood vessel:	n/a	chr20:1166567-1166585
40	CTCF	chr20:1166520-1166670	HRE	kidney:	n/a	chr20:1166567-1166585
41	CTCF	chr20:1166480-1166630	RPTEC	kidney:	n/a	chr20:1166567-1166585
42	YY1	chr20:1166475-1166641	K562	blood:	n/a	n/a
43	ZBTB7A	chr20:1165453-1166680	K562	blood:	n/a	n/a
44	CTCF	chr20:1166520-1166670	HPF	lung:	n/a	chr20:1166567-1166585
45	MYC	chr20:1166482-1166678	NB4	blood:	n/a	n/a
46	CTCF	chr20:1166500-1166650	Hela-S3	cervix:	n/a	chr20:1166567-1166585
47	CTCF	chr20:1166480-1166630	NHEK	skin:	n/a	chr20:1166567-1166585
48	CTCF	chr20:1166500-1166650	HMEC	breast:	n/a	chr20:1166567-1166585
49	CTCF	chr20:1166480-1166630	HCM	heart:	n/a	chr20:1166567-1166585
50	REST	chr20:1166423-1166666	K562	blood:	n/a	chr20:1166507-1166520 chr20:1166504-1166524 chr20:1166504-1166524 chr20:1166504-1166517

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1166329..1168074-chr20:1189249..1191383,2	K562	blood:
2	chr20:796367..797247-chr20:1166167..1167087,2	K562	blood:

Variant related genes	Relation type
TMEM74B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3437185	chr20:1164977-1167825	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3448468	chr20:1165152-1167550	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3370554	chr20:1165752-1167250	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1164800-1166800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr20:1165000-1166800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:1165000-1166800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr20:1165000-1166800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr20:1165000-1167000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr20:1165200-1166600	Active TSS	Left Ventricle	heart
7	chr20:1165200-1166600	Active TSS	Right Atrium	heart
8	chr20:1165200-1166600	Active TSS	K562	blood
9	chr20:1165200-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr20:1165200-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr20:1165400-1166600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:1165400-1166600	Active TSS	A549	lung
13	chr20:1165400-1166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr20:1165600-1166600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:1165600-1166600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:1165600-1166600	Active TSS	Liver	Liver
17	chr20:1165600-1166600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:1165600-1166600	Active TSS	Duodenum Mucosa	Duodenum
19	chr20:1165600-1166600	Active TSS	Fetal Intestine Large	intestine
20	chr20:1165600-1166600	Active TSS	Fetal Intestine Small	intestine
21	chr20:1165600-1166600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr20:1165600-1166600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr20:1165600-1166600	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr20:1165600-1166600	Active TSS	Small Intestine	intestine
25	chr20:1165600-1166600	Bivalent/Poised TSS	HepG2	liver
26	chr20:1165600-1166600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr20:1165600-1166800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr20:1165600-1166800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr20:1165600-1166800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr20:1165600-1166800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:1165600-1166800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr20:1165600-1166800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr20:1165600-1166800	Bivalent/Poised TSS	Thymus	Thymus
34	chr20:1165800-1166600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:1165800-1166600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr20:1165800-1166600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr20:1165800-1166600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
38	chr20:1165800-1166600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:1165800-1166600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr20:1165800-1166600	Bivalent/Poised TSS	Ovary	ovary
41	chr20:1165800-1166800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr20:1166000-1166600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr20:1166000-1166600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:1166000-1166600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:1166000-1166600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:1166000-1166600	Active TSS	Psoas Muscle	Psoas
47	chr20:1166000-1166600	Active TSS	Right Ventricle	heart
48	chr20:1166000-1169000	Weak transcription	Gastric	stomach
49	chr20:1166200-1166600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr20:1166200-1166600	Active TSS	Hela-S3	cervix

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