Variant report

Variant	rs34474204
Chromosome Location	chr6:35309951-35309952
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	EP300	chr6:35309929-35310364	T-47D	breast:	n/a	chr6:35310352-35310361 chr6:35310252-35310261
2	SP1	chr6:35309852-35310592	H1-hESC	embryonic stem cell:	n/a	chr6:35310202-35310213 chr6:35310269-35310279 chr6:35310236-35310246
3	FOXA1	chr6:35309930-35310374	T-47D	breast:	n/a	n/a
4	SMC3	chr6:35309453-35312128	SK-N-SH	brain:	n/a	chr6:35310765-35310772 chr6:35310162-35310176
5	CEBPB	chr6:35309026-35310530	HCT-116	colon:	n/a	chr6:35309428-35309439
6	NFIC	chr6:35309813-35310731	ECC-1	luminal epithelium:	n/a	n/a
7	SP1	chr6:35309900-35310569	A549	lung:	n/a	chr6:35310202-35310213 chr6:35310269-35310279 chr6:35310236-35310246
8	BCLAF1	chr6:35309919-35310446	GM12878	blood:	n/a	chr6:35310289-35310302 chr6:35310350-35310363 chr6:35310348-35310361 chr6:35310251-35310264
9	BCLAF1	chr6:35309931-35310351	GM12878	blood:	n/a	chr6:35310289-35310302 chr6:35310251-35310264
10	CBX3	chr6:35309839-35310566	K562	blood:	n/a	n/a
11	CREB1	chr6:35309919-35310760	K562	blood:	n/a	chr6:35310300-35310313
12	RAD21	chr6:35309295-35310705	HCT-116	colon:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
13	RAD21	chr6:35309933-35310492	HepG2	liver:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
14	TBP	chr6:35309877-35310486	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr6:35309737-35310545	ECC-1	luminal epithelium:	n/a	n/a
16	TEAD4	chr6:35309815-35310626	K562	blood:	n/a	n/a
17	EGR1	chr6:35309921-35310509	H1-hESC	embryonic stem cell:	n/a	chr6:35310265-35310279
18	RAD21	chr6:35309893-35310669	HepG2	liver:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
19	RAD21	chr6:35309827-35310374	GM12878	blood:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
20	NFIC	chr6:35309718-35310596	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr6:35309304-35309990	ECC-1	luminal epithelium:	n/a	chr6:35309428-35309439
22	CEBPB	chr6:35308881-35310633	HCT-116	colon:	n/a	chr6:35309428-35309439
23	POU2F2	chr6:35309924-35310425	GM12878	blood:	n/a	n/a
24	CTCF	chr6:35309922-35310425	K562	blood:	n/a	chr6:35310163-35310176 chr6:35310165-35310175 chr6:35310160-35310178
25	MAX	chr6:35309921-35310533	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYBL2	chr6:35309871-35310450	HepG2	liver:	n/a	n/a
27	SMC3	chr6:35309805-35310543	GM12878	blood:	n/a	chr6:35310162-35310176
28	MXI1	chr6:35309755-35312680	SK-N-SH	brain:	n/a	n/a
29	SP1	chr6:35309906-35310546	K562	blood:	n/a	chr6:35310202-35310213 chr6:35310269-35310279 chr6:35310236-35310246
30	ZNF263	chr6:35309929-35310517	HEK293-T-REx	kidney:	n/a	chr6:35310132-35310141
31	MAFK	chr6:35309918-35310437	K562	blood:	n/a	n/a
32	ELF1	chr6:35309849-35310550	MCF-7	breast:	n/a	chr6:35310200-35310212 chr6:35310254-35310263 chr6:35310350-35310362 chr6:35310349-35310361
33	REST	chr6:35309949-35310226	ECC-1	luminal epithelium:	n/a	n/a
34	GABPA	chr6:35309892-35310576	MCF-7	breast:	n/a	n/a
35	FOXM1	chr6:35309896-35310383	GM12878	blood:	n/a	n/a
36	MAZ	chr6:35309647-35311901	IMR90	lung:	n/a	chr6:35309826-35309835 chr6:35311400-35311409
37	ZC3H11A	chr6:35309939-35310390	K562	blood:	n/a	n/a
38	CEBPB	chr6:35309165-35310274	MCF-7	breast:	n/a	chr6:35309428-35309439
39	RAD21	chr6:35309321-35310711	HCT-116	colon:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
40	ZNF217	chr6:35309872-35310263	MCF-7	breast:	n/a	n/a
41	EGR1	chr6:35309844-35310585	MCF-7	breast:	n/a	chr6:35310265-35310279
42	RAD21	chr6:35309883-35310471	H1-hESC	embryonic stem cell:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
43	CTCF	chr6:35309425-35310601	HCT-116	colon:	n/a	chr6:35310163-35310176 chr6:35310165-35310175 chr6:35310160-35310178
44	CTCF	chr6:35309822-35310660	A549	lung:	n/a	chr6:35310163-35310176 chr6:35310165-35310175 chr6:35310160-35310178
45	EGR1	chr6:35309731-35310678	HCT-116	colon:	n/a	chr6:35310265-35310279
46	BHLHE40	chr6:35309861-35310486	K562	blood:	n/a	chr6:35310348-35310364 chr6:35310350-35310366 chr6:35310161-35310177
47	RAD21	chr6:35309940-35310342	GM12878	blood:	n/a	chr6:35310161-35310180 chr6:35310165-35310174 chr6:35310164-35310177 chr6:35310175-35310189
48	STAT5A	chr6:35309903-35310435	K562	blood:	n/a	n/a
49	CREB1	chr6:35309859-35311032	HepG2	liver:	n/a	chr6:35310300-35310313
50	SIN3AK20	chr6:35309671-35310663	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35309928-35309978	ECC-1	luminal epithelium:	n/a
2	chr6:35309928-35309978	GM06990	blood:	n/a
3	chr6:35309928-35309978	HL-60	blood:	n/a
4	chr6:35309928-35309978	HRPEpiC	eye:	n/a
5	chr6:35309928-35309978	AG04449	skin:	fetal
6	chr6:35309928-35309978	HRE	kidney:	n/a
7	chr6:35309928-35309978	ovcar-3	ovarian:	n/a
8	chr6:35309928-35309978	HIPEpiC	eye:	n/a
9	chr6:35309928-35309978	IMR90	lung:	fetal
10	chr6:35309928-35309978	GM12878	blood:	n/a
11	chr6:35309928-35309978	AG09319	gingival:	n/a
12	chr6:35309928-35309978	CMK	blood:	n/a
13	chr6:35309928-35309978	NHDF-neo	bronchial:	n/a
14	chr6:35309928-35309978	HNPCEpiC	eye:	n/a
15	chr6:35309928-35309978	HCPEpiC	choroid plexus:	n/a
16	chr6:35309928-35309978	Hepatocyte	liver:	n/a
17	chr6:35309928-35309978	SK-N-MC	brain:	n/a
18	chr6:35309928-35309978	RPTEC	kidney:	n/a
19	chr6:35309928-35309978	AoSMC	blood vessel:	n/a
20	chr6:35309928-35309978	PrEC	prostate:	n/a
21	chr6:35309928-35309978	GM12891	blood:	n/a
22	chr6:35309928-35309978	HCM	heart:	n/a
23	chr6:35309928-35309978	SAEC	small airway:	n/a
24	chr6:35309928-35309978	LNCaP	prostate:	n/a
25	chr6:35309928-35309978	NH-A	brain:	n/a
26	chr6:35309928-35309978	K562	blood:	n/a
27	chr6:35309928-35309978	NHBE	bronchial:	n/a
28	chr6:35309928-35309978	HCF	heart:	n/a
29	chr6:35309928-35309978	H1-hESC	embryonic stem cell:	embryo
30	chr6:35309928-35309978	MCF10A-Er-Src	breast:	n/a
31	chr6:35309928-35309978	AG09309	skin:	n/a
32	chr6:35309928-35309978	HRCEpiC	kidney:	n/a
33	chr6:35309928-35309978	HEEpiC	esophagus:	n/a
34	chr6:35309928-35309978	BE2_C	brain:	n/a
35	chr6:35309928-35309978	Hela-S3	cervix:	n/a
36	chr6:35309928-35309978	HUVEC	blood vessel:	n/a
37	chr6:35309928-35309978	NB4	blood:	n/a
38	chr6:35309928-35309978	AG10803	skin:	n/a
39	chr6:35309928-35309978	HAEpiC	amniotic membrane:	n/a
40	chr6:35309928-35309978	NT2-D1	testis:	n/a
41	chr6:35309928-35309978	T-47D	breast:	n/a
42	chr6:35309928-35309978	Caco-2	colon:	n/a
43	chr6:35309928-35309978	AG04450	lung:	fetal
44	chr6:35309928-35309978	U87	brain:	n/a
45	chr6:35309928-35309978	ProgFib	skin:	n/a
46	chr6:35309928-35309978	A549	lung:	n/a
47	chr6:35309928-35309978	HepG2	liver:	n/a
48	chr6:35309928-35309978	HEK293	kidney:	embryo
49	chr6:35309928-35309978	SK-N-SH_RA	brain:	n/a
50	chr6:35309928-35309978	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35308697..35314051-chr6:35417510..35421585,8	K562	blood:
2	chr6:35308405..35313609-chr6:35434054..35440248,12	K562	blood:
3	chr6:35308378..35313609-chr6:35433550..35439145,12	K562	blood:
4	chr6:35309667..35310668-chr6:35435356..35436547,17	K562	blood:
5	chr6:35309662..35310600-chr6:35435587..35436198,4	MCF-7	breast:
6	chr6:35225346..35227530-chr6:35309507..35311733,2	MCF-7	breast:
7	chr6:35309118..35313462-chr6:35418133..35422102,7	MCF-7	breast:
8	chr6:35294980..35297541-chr6:35307436..35310108,3	K562	blood:
9	chr6:35307588..35310210-chr6:35369138..35372365,3	K562	blood:
10	chr6:35265198..35265903-chr6:35309667..35310572,2	MCF-7	breast:
11	chr6:35309215..35314259-chr6:35432456..35439068,10	MCF-7	breast:
12	chr6:35309722..35310228-chr6:35360820..35361514,2	K562	blood:
13	chr15:45003255..45004064-chr6:35309943..35310848,2	Hela-S3	cervix:
14	chr6:35261055..35266113-chr6:35308586..35312212,6	K562	blood:
15	chr6:35309852..35312289-chr6:35417832..35421264,4	K562	blood:

Variant related genes	Relation type
PPARD	TF binding region
PPARD	CpG island
ENSG00000198755	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000065029	Chromatin interaction

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

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

rs_ID	r²[population]
rs13362808	0.86[EUR][1000 genomes]
rs16874216	0.80[EUR][1000 genomes]
rs45482297	0.80[EUR][1000 genomes]
rs56987668	1.00[ASN][1000 genomes]
rs57060566	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58114880	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59654131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61280851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61333739	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61562178	1.00[ASN][1000 genomes]
rs6457820	0.83[ASN][1000 genomes]
rs6915410	0.86[EUR][1000 genomes]
rs6939017	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73409710	0.80[EUR][1000 genomes]
rs73409758	0.80[EUR][1000 genomes]
rs73411747	0.93[EUR][1000 genomes]
rs7744392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658058	1.00[ASN][1000 genomes]
rs9658061	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658067	0.89[EUR][1000 genomes]
rs9658080	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942488	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9942489	1.00[ASN][1000 genomes]
rs9942501	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv602907	chr6:35285720-35312267	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35286600-35310000	Weak transcription	Right Atrium	heart
2	chr6:35308800-35310000	Enhancers	HepG2	liver
3	chr6:35308800-35310200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:35308800-35310200	Enhancers	Placenta	Placenta
5	chr6:35309200-35310000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:35309400-35310000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:35309400-35310000	Enhancers	Fetal Thymus	thymus
8	chr6:35309400-35310200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:35309400-35310200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:35309600-35310000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:35309600-35310000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:35309600-35310000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:35309600-35310000	Enhancers	Stomach Smooth Muscle	stomach
14	chr6:35309600-35310200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:35309600-35310200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:35309600-35310200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:35309600-35310200	Enhancers	Colon Smooth Muscle	Colon
18	chr6:35309600-35310200	Enhancers	HMEC	breast
19	chr6:35309600-35310400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:35309600-35311000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:35309800-35310000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:35309800-35310000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:35309800-35310000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr6:35309800-35310000	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:35309800-35310000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:35309800-35310000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:35309800-35310000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:35309800-35310000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:35309800-35310000	Enhancers	Brain Anterior Caudate	brain
30	chr6:35309800-35310000	Enhancers	Fetal Kidney	kidney
31	chr6:35309800-35310000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:35309800-35310000	Flanking Active TSS	Hela-S3	cervix
33	chr6:35309800-35310000	Flanking Active TSS	NHEK	skin
34	chr6:35309800-35310200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:35309800-35310200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:35309800-35310200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:35309800-35310200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:35309800-35310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:35309800-35310200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:35309800-35310200	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:35309800-35310200	Enhancers	Primary T cells from cord blood	blood
42	chr6:35309800-35310200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr6:35309800-35310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:35309800-35310200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:35309800-35310200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:35309800-35310200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr6:35309800-35310200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:35309800-35310200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:35309800-35310200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:35309800-35310200	Enhancers	Adipose Nuclei	Adipose

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