Variant report

Variant	rs200522974
Chromosome Location	chr6:27782376-27782377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27781476-27784189	ProgFib	skin:	n/a	n/a
2	PML	chr6:27782350-27784057	GM12878	blood:	n/a	n/a
3	HA-E2F1	chr6:27782053-27782778	MCF-7	breast:	n/a	chr6:27782597-27782606 chr6:27782701-27782710 chr6:27782598-27782605 chr6:27782598-27782605 chr6:27782594-27782605 chr6:27782598-27782605 chr6:27782699-27782708 chr6:27782595-27782610
4	POLR2A	chr6:27781096-27784165	GM18505	blood:	n/a	n/a
5	POLR2A	chr6:27781361-27783350	Hela-S3	cervix:	n/a	n/a
6	SP1	chr6:27782134-27783230	A549	lung:	n/a	n/a
7	POLR2A	chr6:27781536-27783771	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr6:27781320-27783475	U87	brain:	n/a	n/a
9	CTCF	chr6:27782312-27782439	LNCaP	prostate:	n/a	n/a
10	FOXA1	chr6:27781683-27782564	HepG2	liver:	n/a	n/a
11	FOSL2	chr6:27781949-27782702	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:27779808-27783925	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr6:27782124-27782582	K562	blood:	n/a	n/a
14	SIN3AK20	chr6:27782184-27782618	A549	lung:	n/a	n/a
15	MTA3	chr6:27782365-27783982	GM12878	blood:	n/a	n/a
16	MYC	chr6:27782358-27782563	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:27781403-27783773	GM12891	blood:	n/a	n/a
18	POLR2A	chr6:27781745-27782632	Gliobla	brain:	n/a	n/a
19	REST	chr6:27782374-27783000	A549	lung:	n/a	n/a
20	POLR2A	chr6:27781061-27783247	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr6:27782073-27782698	HepG2	liver:	n/a	n/a
22	CTCF	chr6:27782126-27782417	GM12892	blood:	n/a	n/a
23	BATF	chr6:27782021-27782683	GM12878	blood:	n/a	n/a
24	JUND	chr6:27782158-27782683	A549	lung:	n/a	n/a
25	FOXM1	chr6:27781391-27783896	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:27781286-27783860	SK-N-SH	brain:	n/a	n/a
27	E2F4	chr6:27782373-27782909	MCF10A-Er-Src	breast:	n/a	chr6:27782597-27782606 chr6:27782701-27782710 chr6:27782598-27782605 chr6:27782598-27782605 chr6:27782594-27782605 chr6:27782598-27782605 chr6:27782699-27782708 chr6:27782595-27782610
28	SIN3AK20	chr6:27782102-27782654	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:27781646-27783336	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:27780777-27784258	GM12878	blood:	n/a	n/a
31	MYBL2	chr6:27781455-27783474	HepG2	liver:	n/a	n/a
32	CTCF	chr6:27782373-27782380	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:27781498-27782898	MCF10A-Er-Src	breast:	n/a	n/a
34	PBX3	chr6:27782320-27782574	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:27781970-27782625	A549	lung:	n/a	n/a
36	TEAD4	chr6:27781419-27783062	HepG2	liver:	n/a	n/a
37	MYC	chr6:27782094-27782428	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:27781293-27783971	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr6:27781474-27784000	Raji	blood:	n/a	n/a
40	TCF3	chr6:27781660-27783345	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:27781507-27783878	GM12891	blood:	n/a	n/a
42	TAF1	chr6:27782112-27782598	HepG2	liver:	n/a	n/a
43	GTF2F1	chr6:27781748-27782888	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:27781453-27782994	MCF10A-Er-Src	breast:	n/a	n/a
45	EP300	chr6:27781970-27783176	GM12878	blood:	n/a	chr6:27781981-27781991
46	SPI1	chr6:27782197-27782635	GM12878	blood:	n/a	n/a
47	SP1	chr6:27782060-27783143	GM12878	blood:	n/a	n/a
48	CHD2	chr6:27781713-27782998	Hela-S3	cervix:	n/a	n/a
49	JUND	chr6:27782007-27782613	HepG2	liver:	n/a	n/a
50	SIX5	chr6:27782163-27782872	A549	lung:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
2	chr6:27121049..27122918-chr6:27780624..27782591,2	K562	blood:
3	chr6:27100161..27102247-chr6:27781053..27784459,3	MCF-7	breast:
4	chr6:26043139..26044932-chr6:27781664..27783621,2	MCF-7	breast:
5	chr6:27780572..27782800-chr6:28000600..28002491,2	K562	blood:
6	chr6:27093369..27111594-chr6:27770152..27782376,64	K562	blood:
7	chr6:26182173..26185335-chr6:27780962..27783737,3	MCF-7	breast:
8	chr6:27780093..27783062-chr6:28322537..28324933,2	K562	blood:
9	chr22:39639283..39641253-chr6:27780476..27782523,2	MCF-7	breast:
10	chr6:26155301..26160613-chr6:27781458..27785146,6	MCF-7	breast:
11	chr6:27735339..27736956-chr6:27780482..27782528,2	MCF-7	breast:
12	chr6:26215420..26218815-chr6:27778137..27782519,4	MCF-7	breast:
13	chr6:26270120..26272852-chr6:27781048..27782550,2	MCF-7	breast:
14	chr6:27114761..27115391-chr6:27781503..27782495,2	MCF-7	breast:
15	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
16	chr19:4910164..4910980-chr6:27782001..27782558,2	Hela-S3	cervix:
17	chr14:50360748..50362571-chr6:27780404..27782536,2	MCF-7	breast:
18	chr1:185285853..185286793-chr6:27782269..27782920,2	Hela-S3	cervix:
19	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
20	chr6:26233018..26235518-chr6:27781228..27784528,3	MCF-7	breast:
21	chr6:27113704..27115641-chr6:27781150..27784385,3	MCF-7	breast:
22	chr6:27111360..27127716-chr6:27768319..27787545,69	MCF-7	breast:
23	chr6:26122193..26124669-chr6:27781205..27782892,3	MCF-7	breast:
24	chr6:27782015..27782992-chr8:95731280..95732018,2	NB4	blood:
25	chr6:26198554..26201743-chr6:27781165..27784293,4	MCF-7	breast:
26	chr14:64969586..64971373-chr6:27781788..27783642,2	MCF-7	breast:
27	chr10:35625339..35626160-chr6:27781449..27782425,2	HCT-116	colon:
28	chr6:26020260..26024010-chr6:27780504..27784636,5	MCF-7	breast:
29	chr6:27781952..27782555-chr6:27805029..27805895,2	Hela-S3	cervix:
30	chr6:27104887..27109324-chr6:27780147..27783327,4	MCF-7	breast:
31	chr17:39845026..39845560-chr6:27781945..27782733,2	Hela-S3	cervix:
32	chr2:183902933..183903582-chr6:27782215..27782898,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HIST1H2BM	TF binding region
ENSG00000196226	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000234816	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000100311	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000197697	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000108100	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000218281	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000217315	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000034063	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000061676	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000256018	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv1017057	chr6:27745777-27789683	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	125 gene(s)	inside rSNPs	diseases
7	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
8	nsv970094	chr6:27782238-27786201	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	41 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27774400-27784000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:27778200-27782400	Weak transcription	Spleen	Spleen
3	chr6:27778400-27782400	Weak transcription	Lung	lung
4	chr6:27778400-27782400	Weak transcription	Pancreas	Pancrea
5	chr6:27778600-27782600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:27779000-27782400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:27779400-27782400	Weak transcription	Stomach Mucosa	stomach
8	chr6:27779600-27782600	Weak transcription	Fetal Heart	heart
9	chr6:27780200-27784000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr6:27780400-27783800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:27780800-27782800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:27780800-27784200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:27781000-27782400	Weak transcription	Right Atrium	heart
14	chr6:27781000-27783000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:27781000-27783400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:27781000-27784400	Active TSS	Brain Germinal Matrix	brain
17	chr6:27781200-27783600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:27781200-27783600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:27781200-27784000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:27781200-27784400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:27781200-27784400	Active TSS	A549	lung
22	chr6:27781400-27782800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:27781600-27782800	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:27781600-27783000	Active TSS	Fetal Muscle Leg	muscle
25	chr6:27781600-27783200	Active TSS	Fetal Stomach	stomach
26	chr6:27781600-27783200	Active TSS	NH-A	brain
27	chr6:27781600-27783600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:27781600-27783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:27781600-27783600	Active TSS	Fetal Brain Female	brain
30	chr6:27781600-27783800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:27781600-27784000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:27781600-27784000	Active TSS	Thymus	Thymus
33	chr6:27781800-27782400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr6:27781800-27782400	Enhancers	Liver	Liver
35	chr6:27781800-27782600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:27781800-27782600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:27781800-27782800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:27781800-27782800	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr6:27781800-27782800	Active TSS	Rectal Smooth Muscle	rectum
40	chr6:27781800-27783000	Active TSS	Hela-S3	cervix
41	chr6:27781800-27783200	Active TSS	Fetal Kidney	kidney
42	chr6:27781800-27783200	Active TSS	HepG2	liver
43	chr6:27781800-27783400	Active TSS	HSMM	muscle
44	chr6:27781800-27783600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:27781800-27784000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:27781800-27784000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:27782000-27782400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:27782000-27782400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr6:27782000-27782400	Active TSS	Colon Smooth Muscle	Colon
50	chr6:27782000-27782600	Active TSS	Stomach Smooth Muscle	stomach

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