Variant report

Variant	rs371472237
Chromosome Location	chr6:163837083-163837084
allele	-/GGGT
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	POLR2A	chr6:163833865-163837731	GM18505	blood:	n/a	n/a
2	RCOR1	chr6:163836829-163837973	GM12878	blood:	n/a	n/a
3	CUX1	chr6:163836923-163837378	K562	blood:	n/a	n/a
4	TBP	chr6:163836941-163837129	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:163836674-163837298	K562	blood:	n/a	n/a
6	SIN3AK20	chr6:163837046-163837243	PFSK-1	brain:	n/a	n/a
7	MAZ	chr6:163836718-163837221	Hela-S3	cervix:	n/a	chr6:163837085-163837095 chr6:163836739-163836748
8	TBL1XR1	chr6:163836856-163839187	K562	blood:	n/a	n/a
9	ZBTB7A	chr6:163836018-163837143	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr6:163837014-163838703	K562	blood:	n/a	n/a
11	REST	chr6:163836619-163837178	HL-60	blood:	n/a	chr6:163836632-163836645
12	EBF1	chr6:163836935-163837247	GM12878	blood:	n/a	n/a
13	CHD2	chr6:163836807-163837612	GM12878	blood:	n/a	n/a
14	BRCA1	chr6:163837066-163837541	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:163836214-163838037	GM12891	blood:	n/a	n/a
16	EGR1	chr6:163836897-163837220	K562	blood:	n/a	chr6:163837088-163837098 chr6:163837090-163837100 chr6:163837087-163837097 chr6:163837089-163837099 chr6:163837084-163837094 chr6:163837091-163837104 chr6:163837085-163837095
17	RELA	chr6:163836842-163837758	GM19099	blood:	n/a	n/a
18	MYC	chr6:163836644-163838151	K562	blood:	n/a	chr6:163837085-163837095 chr6:163836739-163836748
19	SIN3A	chr6:163836167-163838166	H1-hESC	embryonic stem cell:	n/a	chr6:163836693-163836704
20	ZNF384	chr6:163836894-163839662	K562	blood:	n/a	n/a
21	BACH1	chr6:163836952-163838291	K562	blood:	n/a	n/a
22	HEY1	chr6:163836870-163837149	K562	blood:	n/a	n/a
23	POLR2A	chr6:163836200-163838333	K562	blood:	n/a	n/a
24	MAX	chr6:163836820-163837339	GM12878	blood:	n/a	chr6:163837085-163837095
25	MXI1	chr6:163833200-163838755	SK-N-SH	brain:	n/a	n/a
26	SIN3AK20	chr6:163836799-163837123	PFSK-1	brain:	n/a	n/a
27	ZBTB33	chr6:163836879-163837311	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:163836810-163837099	SK-N-SH	brain:	n/a	n/a
29	CHD1	chr6:163835594-163839152	IMR90	lung:	n/a	n/a
30	ZBTB33	chr6:163836829-163837221	HepG2	liver:	n/a	n/a
31	RAD21	chr6:163836844-163838236	IMR90	lung:	n/a	n/a
32	REST	chr6:163837022-163837232	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr6:163836608-163837241	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:163834145-163837397	GM12892	blood:	n/a	n/a
35	ZNF263	chr6:163836562-163837361	HEK293-T-REx	kidney:	n/a	n/a
36	NFIC	chr6:163836704-163837169	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:163836672-163837333	GM12892	blood:	n/a	n/a
38	IRF1	chr6:163836838-163839596	K562	blood:	n/a	chr6:163837498-163837512 chr6:163837425-163837441 chr6:163837502-163837512 chr6:163837502-163837516 chr6:163837499-163837516 chr6:163837500-163837513 chr6:163837499-163837513 chr6:163837496-163837510 chr6:163837494-163837514 chr6:163837502-163837513 chr6:163837500-163837513 chr6:163838093-163838100
39	MYC	chr6:163833941-163837264	K562	blood:	n/a	chr6:163837085-163837095 chr6:163835111-163835124 chr6:163835113-163835122 chr6:163836739-163836748
40	POLR2A	chr6:163834065-163837314	K562	blood:	n/a	n/a
41	SPI1	chr6:163836860-163837183	GM12878	blood:	n/a	n/a
42	ZBTB33	chr6:163836927-163837260	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:163834212-163837338	K562	blood:	n/a	n/a
44	POLR2A	chr6:163836810-163837310	ProgFib	skin:	n/a	n/a
45	RUNX3	chr6:163836691-163837570	GM12878	blood:	n/a	chr6:163837407-163837416
46	SIN3AK20	chr6:163836701-163837248	K562	blood:	n/a	n/a
47	POLR2A	chr6:163836656-163837291	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:163836928-163837124	HepG2	liver:	n/a	n/a
49	ZBTB33	chr6:163836732-163837345	SK-N-SH	brain:	n/a	n/a
50	BRCA1	chr6:163836957-163837175	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163836144..163840696-chr6:163983068..163987938,4	K562	blood:
2	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

Variant related genes	Relation type
CAHM	TF binding region
QKI	TF binding region
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3335151	chr6:163833462-163838560	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3439007	chr6:163833987-163837835	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3438634	chr6:163834437-163837310	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3397634	chr6:163834862-163837660	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1809559	chr6:163834909-163838794	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1819183	chr6:163834909-163838794	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1829454	chr6:163834909-163838794	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1841776	chr6:163834909-163838794	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1851449	chr6:163834909-163838794	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv605205	chr6:163834909-163838794	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv605209	chr6:163835281-163839012	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr6:163833000-163837200	Active TSS	Brain Cingulate Gyrus	brain
3	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:163833200-163837200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
6	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
7	chr6:163833400-163838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:163833400-163838600	Active TSS	Fetal Kidney	kidney
9	chr6:163833400-163838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:163833400-163839400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:163833400-163839400	Active TSS	NH-A	brain
12	chr6:163833400-163839600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:163833400-163839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:163833400-163839800	Active TSS	Fetal Muscle Trunk	muscle
15	chr6:163833400-163840400	Active TSS	Fetal Brain Female	brain
16	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:163833400-163841400	Active TSS	NHLF	lung
19	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
20	chr6:163833600-163837200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:163833600-163838000	Active TSS	Primary T cells fromperipheralblood	blood
22	chr6:163833600-163838400	Active TSS	Placenta	Placenta
23	chr6:163833600-163838600	Active TSS	NHDF-Ad	bronchial
24	chr6:163833600-163838800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr6:163833600-163838800	Active TSS	Hela-S3	cervix
26	chr6:163833600-163839400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:163833600-163839600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:163833600-163840000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:163833600-163840400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:163833600-163841400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:163833600-163841400	Active TSS	HSMM	muscle
32	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
33	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:163833800-163838000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:163833800-163838000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr6:163833800-163838200	Active TSS	Rectal Smooth Muscle	rectum
37	chr6:163833800-163838200	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:163833800-163838600	Active TSS	Adipose Nuclei	Adipose
39	chr6:163833800-163838600	Active TSS	Colon Smooth Muscle	Colon
40	chr6:163833800-163838800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr6:163833800-163838800	Active TSS	Aorta	Aorta
42	chr6:163833800-163839800	Active TSS	Left Ventricle	heart
43	chr6:163833800-163840000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:163833800-163840800	Active TSS	K562	blood
45	chr6:163833800-163841600	Active TSS	Ovary	ovary
46	chr6:163834000-163838000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:163834000-163838000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:163834000-163838000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:163834000-163838000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr6:163834000-163838000	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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