Variant report

Variant	rs191293935
Chromosome Location	chr21:40177344-40177345
allele	A/C
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	CEBPB	chr21:40177249-40177414	K562	blood:	n/a	n/a
2	MAX	chr21:40176897-40178012	ECC-1	luminal epithelium:	n/a	chr21:40177454-40177463 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
3	MXI1	chr21:40176328-40180482	SK-N-SH	brain:	n/a	chr21:40176631-40176646 chr21:40176633-40176648
4	POLR2A	chr21:40177255-40178143	PFSK-1	brain:	n/a	n/a
5	MAX	chr21:40176914-40178092	SK-N-SH	brain:	n/a	chr21:40177454-40177463 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
6	GTF2F1	chr21:40176834-40178025	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr21:40175826-40184443	MCF10A-Er-Src	breast:	n/a	n/a
8	ZBTB7A	chr21:40177330-40178722	K562	blood:	n/a	chr21:40178114-40178125
9	MYC	chr21:40176800-40178471	NB4	blood:	n/a	chr21:40177454-40177463 chr21:40178111-40178121 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
10	RAD21	chr21:40176849-40177397	H1-hESC	embryonic stem cell:	n/a	chr21:40177096-40177109 chr21:40177093-40177112
11	RAD21	chr21:40176494-40178046	ECC-1	luminal epithelium:	n/a	chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178030-40178044
12	ETS1	chr21:40177243-40178427	K562	blood:	n/a	chr21:40177857-40177864 chr21:40178232-40178241 chr21:40177544-40177553
13	POLR2A	chr21:40177279-40177709	A549	lung:	n/a	n/a
14	TCF7L2	chr21:40176617-40177947	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr21:40177100-40180919	PBDE	blood:	n/a	n/a
16	ZNF384	chr21:40177020-40177876	K562	blood:	n/a	n/a
17	FOXP2	chr21:40177342-40178054	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr21:40177320-40178063	GM10847	blood:	n/a	n/a
19	POLR2A	chr21:40176831-40178983	HL-60	blood:	n/a	n/a
20	TBP	chr21:40177071-40178406	K562	blood:	n/a	n/a
21	EP300	chr21:40176364-40180305	SK-N-SH	brain:	n/a	chr21:40179345-40179359 chr21:40177988-40177997 chr21:40178219-40178228 chr21:40179343-40179357 chr21:40178259-40178275 chr21:40179344-40179358 chr21:40178028-40178044 chr21:40179342-40179356 chr21:40178328-40178344 chr21:40178322-40178331
22	POLR2A	chr21:40177202-40178325	A549	lung:	n/a	n/a
23	CCNT2	chr21:40176993-40179135	K562	blood:	n/a	n/a
24	TCF12	chr21:40176681-40178155	A549	lung:	n/a	n/a
25	HEY1	chr21:40177252-40178132	K562	blood:	n/a	chr21:40177985-40178000 chr21:40178067-40178082 chr21:40178106-40178121
26	CHD1	chr21:40177257-40177353	GM12878	blood:	n/a	n/a
27	TBL1XR1	chr21:40176988-40177899	K562	blood:	n/a	n/a
28	POLR2A	chr21:40177116-40178153	U87	brain:	n/a	n/a
29	GABPA	chr21:40177240-40178451	K562	blood:	n/a	chr21:40177452-40177461 chr21:40178026-40178035 chr21:40177988-40177997 chr21:40178322-40178331
30	POLR2A	chr21:40177260-40178541	NB4	blood:	n/a	n/a
31	POLR2A	chr21:40177296-40178259	GM15510	blood:	n/a	n/a
32	POLR2A	chr21:40177252-40178085	HEK293	kidney:	n/a	n/a
33	ZKSCAN1	chr21:40176931-40177978	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr21:40177060-40178136	K562	blood:	n/a	n/a
35	POLR2A	chr21:40176818-40178228	HUVEC	blood vessel:	n/a	n/a
36	REST	chr21:40176846-40177593	U87	brain:	n/a	chr21:40177144-40177162
37	POLR2A	chr21:40177052-40178113	PFSK-1	brain:	n/a	n/a
38	USF1	chr21:40177312-40177607	HepG2	liver:	n/a	chr21:40177521-40177537
39	RAD21	chr21:40176426-40178698	MCF-7	breast:	n/a	chr21:40178543-40178556 chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178101-40178114 chr21:40178124-40178136 chr21:40178030-40178044
40	TEAD4	chr21:40177192-40178063	K562	blood:	n/a	n/a
41	POLR2A	chr21:40177065-40178426	SK-N-MC	brain:	n/a	n/a
42	TAF1	chr21:40177254-40178128	ECC-1	luminal epithelium:	n/a	n/a
43	SIN3AK20	chr21:40176999-40178059	SK-N-SH	brain:	n/a	n/a
44	E2F6	chr21:40176650-40178180	K562	blood:	n/a	chr21:40177209-40177226 chr21:40178104-40178114 chr21:40177212-40177223
45	POLR2A	chr21:40177289-40178035	HepG2	liver:	n/a	n/a
46	MYC	chr21:40177062-40177847	H1-hESC	embryonic stem cell:	n/a	chr21:40177454-40177463 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
47	TBL1XR1	chr21:40177330-40177955	K562	blood:	n/a	n/a
48	USF1	chr21:40177194-40177653	K562	blood:	n/a	chr21:40177521-40177537
49	BACH1	chr21:40177000-40177993	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr21:40177192-40178616	GM12878	blood:	n/a	chr21:40177454-40177463 chr21:40178111-40178121 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465

No.	Distal block	Cell Line	Cell type
1	chr21:40176403..40178101-chr21:40218059..40219647,2	K562	blood:
2	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
3	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
4	chr21:40176416..40179104-chr21:40257484..40260730,3	MCF-7	breast:
5	chr21:40176601..40179515-chr21:40218059..40219886,2	K562	blood:
6	chr21:40174647..40179577-chr21:40285247..40287797,5	MCF-7	breast:
7	chr11:67249840..67250624-chr21:40177263..40178201,2	Hela-S3	cervix:
8	chr21:40176740..40177648-chr7:16685493..16686292,2	Hela-S3	cervix:
9	chr1:210546726..210547661-chr21:40176943..40177887,2	Hela-S3	cervix:
10	chr21:40177082..40177855-chr9:125666873..125667749,2	Hela-S3	cervix:
11	chr21:40176416..40178956-chr21:40498284..40502065,4	MCF-7	breast:
12	chr21:40176263..40179138-chr21:40817088..40818717,2	K562	blood:
13	chr21:40177189..40177905-chr5:108744975..108745566,2	Hela-S3	cervix:

Variant related genes	Relation type
ETS2	TF binding region
ENSG00000056586	Chromatin interaction
ENSG00000228861	Chromatin interaction
ENSG00000198961	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000229925	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000234035	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000229986	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
3	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3430408	chr21:40176482-40179580	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40176000-40177400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr21:40176000-40177600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:40176200-40177400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr21:40176400-40177400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40176400-40177400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr21:40176400-40177400	Flanking Active TSS	Fetal Intestine Small	intestine
7	chr21:40176400-40177400	Flanking Active TSS	NH-A	brain
8	chr21:40176400-40177600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:40176400-40177600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr21:40176600-40177400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr21:40176600-40177400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr21:40176600-40177400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr21:40176600-40177400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr21:40176600-40177400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr21:40176600-40177400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:40176600-40177400	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr21:40176600-40177400	Flanking Active TSS	Fetal Lung	lung
18	chr21:40176600-40177600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:40176600-40177600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr21:40176600-40177600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr21:40176600-40177600	Flanking Active TSS	Dnd41	blood
22	chr21:40176600-40177600	Flanking Active TSS	Osteobl	bone
23	chr21:40176600-40179800	Active TSS	Rectal Smooth Muscle	rectum
24	chr21:40176600-40180400	Active TSS	Ovary	ovary
25	chr21:40176600-40181600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr21:40176600-40182000	Active TSS	Brain Anterior Caudate	brain
27	chr21:40176800-40177400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr21:40176800-40177400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:40176800-40177400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr21:40176800-40177400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr21:40176800-40177400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:40176800-40177400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr21:40176800-40177400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr21:40176800-40177400	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr21:40176800-40177400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr21:40176800-40177400	Flanking Active TSS	Placenta	Placenta
37	chr21:40176800-40177400	Flanking Active TSS	Fetal Stomach	stomach
38	chr21:40176800-40177400	Flanking Active TSS	Fetal Thymus	thymus
39	chr21:40176800-40177400	Flanking Active TSS	Pancreas	Pancrea
40	chr21:40176800-40177400	Flanking Active TSS	HUVEC	blood vessel
41	chr21:40176800-40177400	Flanking Active TSS	K562	blood
42	chr21:40176800-40177400	Flanking Active TSS	NHLF	lung
43	chr21:40176800-40177600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:40176800-40177600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr21:40176800-40177600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:40176800-40177600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr21:40176800-40177600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
48	chr21:40176800-40177600	Flanking Active TSS	GM12878-XiMat	blood
49	chr21:40176800-40177800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:40176800-40177800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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