Variant report

Variant	rs45477193
Chromosome Location	chr6:114177395-114177396
allele	C/G
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	MAFF	chr6:114176985-114177603	HepG2	liver:	n/a	chr6:114177245-114177263
2	MAFK	chr6:114176781-114177646	IMR90	lung:	n/a	chr6:114177247-114177262 chr6:114177248-114177259 chr6:114177248-114177268 chr6:114177246-114177260
3	MAX	chr6:114177102-114178714	SK-N-SH	brain:	n/a	chr6:114177265-114177274
4	RELA	chr6:114176416-114177571	GM18951	blood:	n/a	n/a
5	POLR2A	chr6:114175846-114180712	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr6:114177142-114180867	HepG2	liver:	n/a	n/a
7	CHD1	chr6:114177199-114177760	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr6:114175744-114178762	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr6:114176406-114181921	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:114175646-114180580	H1-neurons	neurons:	n/a	n/a
11	GATA2	chr6:114177200-114178608	SH-SY5Y	brain:	n/a	n/a
12	POLR2A	chr6:114176415-114177670	GM12892	blood:	n/a	n/a
13	TAF1	chr6:114177140-114177847	SK-N-SH	brain:	n/a	n/a
14	RELA	chr6:114176836-114180588	GM18505	blood:	n/a	n/a
15	POLR2A	chr6:114177228-114177466	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr6:114176891-114180759	GM12878	blood:	n/a	chr6:114176896-114176905 chr6:114177265-114177274 chr6:114178787-114178797 chr6:114179441-114179451 chr6:114179438-114179448
17	TBL1XR1	chr6:114175956-114177709	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:114177290-114177664	ProgFib	skin:	n/a	n/a
19	E2F6	chr6:114176722-114178723	A549	lung:	n/a	chr6:114178440-114178449
20	TCF12	chr6:114176432-114178763	A549	lung:	n/a	n/a
21	POLR2A	chr6:114176978-114179368	PFSK-1	brain:	n/a	n/a
22	FOXA1	chr6:114177384-114177711	HepG2	liver:	n/a	n/a
23	ATF2	chr6:114177286-114178791	GM12878	blood:	n/a	chr6:114178488-114178502
24	POLR2A	chr6:114176409-114177640	GM12891	blood:	n/a	n/a
25	POLR2A	chr6:114175666-114182237	GM12878	blood:	n/a	n/a
26	ZNF143	chr6:114177056-114177586	GM12878	blood:	n/a	n/a
27	FOXA1	chr6:114177330-114177843	HepG2	liver:	n/a	n/a
28	MAX	chr6:114176522-114177745	A549	lung:	n/a	chr6:114176896-114176905 chr6:114177265-114177274
29	MAZ	chr6:114175600-114179162	IMR90	lung:	n/a	chr6:114176896-114176905 chr6:114177265-114177274 chr6:114178787-114178797
30	POLR2A	chr6:114177247-114177651	U87	brain:	n/a	n/a
31	JUN	chr6:114177391-114177490	H1-hESC	embryonic stem cell:	n/a	n/a
32	HEY1	chr6:114177242-114177747	HepG2	liver:	n/a	n/a
33	ZNF263	chr6:114176924-114178466	HEK293-T-REx	kidney:	n/a	n/a
34	POLR2A	chr6:114177227-114177483	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:114175811-114182488	GM18505	blood:	n/a	n/a
36	POLR2A	chr6:114176917-114180880	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:114176306-114180949	PFSK-1	brain:	n/a	n/a
38	MXI1	chr6:114174689-114182165	SK-N-SH	brain:	n/a	chr6:114176472-114176487 chr6:114176474-114176489
39	MXI1	chr6:114175563-114177601	GM12878	blood:	n/a	chr6:114176472-114176487 chr6:114176474-114176489
40	POLR2A	chr6:114176294-114180775	HUVEC	blood vessel:	n/a	n/a
41	REST	chr6:114175598-114180889	H1-neurons	neurons:	n/a	chr6:114178774-114178787 chr6:114180711-114180724 chr6:114180209-114180222 chr6:114180178-114180191
42	RAD21	chr6:114175172-114181070	SK-N-SH	brain:	n/a	chr6:114180281-114180291 chr6:114179232-114179244 chr6:114180277-114180296 chr6:114180279-114180291 chr6:114176321-114176333 chr6:114179321-114179331 chr6:114178442-114178452 chr6:114180337-114180351 chr6:114180794-114180804
43	POLR2A	chr6:114177247-114177618	U87	brain:	n/a	n/a
44	PBX3	chr6:114177262-114178789	SK-N-SH	brain:	n/a	chr6:114178282-114178291
45	CHD1	chr6:114176489-114180677	GM12878	blood:	n/a	chr6:114179443-114179453
46	POLR2A	chr6:114176708-114177691	GM12892	blood:	n/a	n/a
47	TBP	chr6:114176114-114177723	GM12878	blood:	n/a	n/a
48	WRNIP1	chr6:114176475-114180725	GM12878	blood:	n/a	n/a
49	STAT3	chr6:114176855-114178687	GM12878	blood:	n/a	chr6:114178148-114178160
50	TCF12	chr6:114175648-114181008	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
2	chr6:114134634..114136200-chr6:114175448..114177734,2	MCF-7	breast:
3	chr6:113951972..113954125-chr6:114177118..114180293,3	MCF-7	breast:
4	chr6:112667268..112670155-chr6:114175436..114177646,2	K562	blood:

Variant related genes	Relation type
MARCKS	TF binding region
ENSG00000251258	Chromatin interaction
ENSG00000230943	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1026641	0.82[EUR][1000 genomes]
rs352090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132138	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548031	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55884650	0.82[EUR][1000 genomes]
rs55938064	0.87[EUR][1000 genomes]
rs594930	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60077422	0.89[ASN][1000 genomes]
rs612084	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72942608	1.00[ASN][1000 genomes]
rs72942611	1.00[ASN][1000 genomes]
rs72942681	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72944607	0.82[EUR][1000 genomes]
rs72944627	0.82[EUR][1000 genomes]
rs72944632	0.82[EUR][1000 genomes]
rs72944642	0.87[EUR][1000 genomes]
rs72944645	0.87[EUR][1000 genomes]
rs72960768	1.00[ASN][1000 genomes]
rs72960775	1.00[ASN][1000 genomes]
rs773188	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175400-114180400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114175400-114182200	Active TSS	A549	lung
3	chr6:114175600-114178000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:114175600-114178800	Active TSS	Brain Germinal Matrix	brain
5	chr6:114175600-114179000	Active TSS	Fetal Brain Female	brain
6	chr6:114175600-114181400	Active TSS	NHLF	lung
7	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
10	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
11	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
12	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
13	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
14	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:114175600-114183600	Active TSS	Right Atrium	heart
16	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:114175800-114177400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr6:114175800-114177800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:114175800-114178000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr6:114175800-114179600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:114175800-114180400	Active TSS	Colonic Mucosa	Colon
22	chr6:114175800-114180400	Active TSS	Right Ventricle	heart
23	chr6:114175800-114180400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr6:114175800-114180600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:114175800-114180800	Active TSS	Fetal Kidney	kidney
26	chr6:114175800-114181800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:114175800-114181800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:114175800-114181800	Active TSS	Brain Angular Gyrus	brain
29	chr6:114175800-114181800	Active TSS	Esophagus	oesophagus
30	chr6:114175800-114181800	Active TSS	Gastric	stomach
31	chr6:114175800-114181800	Active TSS	Pancreas	Pancrea
32	chr6:114175800-114181800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr6:114175800-114182000	Active TSS	Aorta	Aorta
34	chr6:114175800-114182000	Active TSS	Fetal Intestine Small	intestine
35	chr6:114175800-114182200	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:114175800-114182200	Active TSS	Ovary	ovary
37	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
39	chr6:114176000-114177400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:114176000-114177400	Active TSS	GM12878-XiMat	blood
41	chr6:114176000-114179000	Active TSS	Rectal Smooth Muscle	rectum
42	chr6:114176000-114180400	Active TSS	Left Ventricle	heart
43	chr6:114176000-114181000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:114176000-114182400	Active TSS	Fetal Intestine Large	intestine
45	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
46	chr6:114176200-114177800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:114176200-114178000	Weak transcription	Lung	lung
48	chr6:114176200-114178000	Weak transcription	Spleen	Spleen
49	chr6:114176200-114179800	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:114176200-114180600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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