Variant report

Variant	rs2817035
Chromosome Location	chr6:35696363-35696364
allele	A/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	EP300	chr6:35695879-35696447	GM12878	blood:	n/a	n/a
2	JUND	chr6:35694012-35696615	K562	blood:	n/a	chr6:35694276-35694287 chr6:35694459-35694467 chr6:35694277-35694287 chr6:35694274-35694285 chr6:35694620-35694629 chr6:35695509-35695518
3	POLR2A	chr6:35694533-35696608	A549	lung:	n/a	n/a
4	MYC	chr6:35695383-35696621	K562	blood:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
5	MAX	chr6:35695194-35696416	ECC-1	luminal epithelium:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
6	EP300	chr6:35695307-35696575	K562	blood:	n/a	chr6:35695875-35695891
7	SIN3A	chr6:35695276-35696412	H1-hESC	embryonic stem cell:	n/a	chr6:35696245-35696253 chr6:35695449-35695458 chr6:35696105-35696114
8	MAZ	chr6:35695231-35696927	K562	blood:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
9	MAX	chr6:35693558-35696986	NB4	blood:	n/a	chr6:35694277-35694286 chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35694622-35694632 chr6:35696095-35696111 chr6:35693859-35693870 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
10	ZNF143	chr6:35695597-35696382	K562	blood:	n/a	chr6:35695881-35695891 chr6:35696078-35696097
11	TBP	chr6:35695330-35696421	K562	blood:	n/a	n/a
12	RELA	chr6:35694824-35696650	GM19099	blood:	n/a	n/a
13	NR3C1	chr6:35693268-35696435	A549	lung:	n/a	chr6:35696340-35696366 chr6:35693574-35693588 chr6:35693284-35693297 chr6:35693571-35693592 chr6:35695944-35695953 chr6:35694075-35694089 chr6:35694072-35694085 chr6:35695930-35695956 chr6:35694069-35694095
14	MAZ	chr6:35693913-35696488	IMR90	lung:	n/a	chr6:35694277-35694286 chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35694622-35694632 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
15	CHD2	chr6:35695365-35696394	K562	blood:	n/a	chr6:35695504-35695514 chr6:35696073-35696083
16	TBL1XR1	chr6:35695743-35696369	K562	blood:	n/a	n/a
17	MYC	chr6:35695837-35696443	K562	blood:	n/a	chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111
18	POLR2A	chr6:35694762-35696454	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:35693020-35697342	MCF10A-Er-Src	breast:	n/a	n/a
20	NR3C1	chr6:35693259-35696428	A549	lung:	n/a	chr6:35696340-35696366 chr6:35693574-35693588 chr6:35693284-35693297 chr6:35693571-35693592 chr6:35695944-35695953 chr6:35694075-35694089 chr6:35694072-35694085 chr6:35695930-35695956 chr6:35694069-35694095
21	STAT3	chr6:35695865-35697210	MCF10A-Er-Src	breast:	n/a	chr6:35696639-35696651 chr6:35696881-35696892 chr6:35696471-35696483 chr6:35696883-35696892 chr6:35696868-35696891 chr6:35696883-35696891 chr6:35696882-35696891 chr6:35696877-35696897
22	MXI1	chr6:35695955-35696375	H1-hESC	embryonic stem cell:	n/a	chr6:35696105-35696114 chr6:35696105-35696114
23	POLR2A	chr6:35695321-35696479	HL-60	blood:	n/a	n/a
24	POLR2A	chr6:35695315-35696747	NB4	blood:	n/a	n/a
25	MAX	chr6:35694279-35696622	HepG2	liver:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35694622-35694632 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
26	POLR2A	chr6:35694773-35697330	K562	blood:	n/a	n/a
27	RFX5	chr6:35695953-35696373	GM12878	blood:	n/a	n/a
28	CTCF	chr6:35696220-35696370	GM12872	blood:	n/a	n/a
29	HEY1	chr6:35694626-35696636	K562	blood:	n/a	chr6:35696168-35696183 chr6:35695725-35695740
30	RCOR1	chr6:35695459-35696420	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:35695290-35696372	GM19099	blood:	n/a	n/a
32	POLR2A	chr6:35695735-35696378	GM12892	blood:	n/a	n/a
33	MAX	chr6:35695209-35696611	K562	blood:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
34	MYBL2	chr6:35695917-35696457	HepG2	liver:	n/a	n/a
35	TEAD4	chr6:35693847-35696656	K562	blood:	n/a	n/a
36	EBF1	chr6:35695818-35697125	GM12878	blood:	n/a	n/a
37	RUNX3	chr6:35695481-35697044	GM12878	blood:	n/a	chr6:35696592-35696601 chr6:35696592-35696601 chr6:35695996-35696011 chr6:35696585-35696600
38	REST	chr6:35695339-35696452	HL-60	blood:	n/a	chr6:35696031-35696041 chr6:35695861-35695874 chr6:35695531-35695549 chr6:35696179-35696192
39	NFATC1	chr6:35695894-35696412	GM12878	blood:	n/a	n/a
40	PML	chr6:35695248-35696402	K562	blood:	n/a	n/a
41	POLR2A	chr6:35693124-35697882	PBDE	blood:	n/a	n/a
42	JUN	chr6:35693405-35697136	K562	blood:	n/a	chr6:35694459-35694467 chr6:35694277-35694287 chr6:35694274-35694285 chr6:35694620-35694629 chr6:35695509-35695518
43	POLR2A	chr6:35695182-35696940	HL-60	blood:	n/a	n/a
44	POLR2A	chr6:35695291-35696706	K562	blood:	n/a	n/a
45	REST	chr6:35694474-35696546	H1-neurons	neurons:	n/a	chr6:35696031-35696041 chr6:35695861-35695874 chr6:35695531-35695549 chr6:35696179-35696192 chr6:35696532-35696545
46	MYC	chr6:35695402-35696383	K562	blood:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
47	MTA3	chr6:35694836-35696987	GM12878	blood:	n/a	n/a
48	EP300	chr6:35695291-35696439	GM12878	blood:	n/a	chr6:35695875-35695891
49	ZMIZ1	chr6:35695640-35696586	K562	blood:	n/a	n/a
50	CEBPB	chr6:35695743-35696370	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35435945..35437939-chr6:35694170..35698146,4	MCF-7	breast:
2	chr10:74925555..74927727-chr6:35696116..35698997,2	K562	blood:
3	chr6:35649031..35660636-chr6:35692310..35701686,35	K562	blood:
4	chr6:35649127..35664209-chr6:35693738..35704622,45	K562	blood:
5	chr6:35632044..35634360-chr6:35695498..35697741,2	K562	blood:
6	chr6:35464241..35466956-chr6:35695881..35700309,4	MCF-7	breast:
7	chr6:35654560..35658324-chr6:35694292..35699560,11	MCF-7	breast:
8	chr6:35434857..35438603-chr6:35692996..35696802,4	K562	blood:
9	chr6:35464312..35466499-chr6:35694204..35696742,2	MCF-7	breast:
10	chr6:35653875..35657933-chr6:35692950..35698749,12	MCF-7	breast:
11	chr6:35668653..35671140-chr6:35695541..35697338,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP5-1	chr6:35696285-35696397	NONHSAT112190

Variant related genes	Relation type
FKBP5	TF binding region
ENSG00000122882	Chromatin interaction
ENSG00000223063	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000265527	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2766532	0.88[EUR][1000 genomes]
rs2766536	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2817031	0.87[EUR][1000 genomes]
rs2817032	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2817040	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4236047	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4711429	0.80[AMR][1000 genomes]
rs4713919	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv7890	chr6:35692021-35701911	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:35690800-35699400	Weak transcription	Ovary	ovary
2	chr6:35691200-35698400	Enhancers	Lung	lung
3	chr6:35693000-35697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr6:35693000-35697800	Enhancers	Gastric	stomach
5	chr6:35693000-35699200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:35693200-35697000	Flanking Active TSS	Fetal Thymus	thymus
7	chr6:35693200-35697200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:35693200-35697200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:35693200-35697200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr6:35694600-35696600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr6:35694800-35696400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr6:35694800-35696600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr6:35695000-35696400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr6:35695000-35696400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:35695000-35696400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr6:35695000-35696400	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr6:35695000-35697000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:35695200-35696400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:35695200-35696400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:35695200-35696400	Active TSS	Thymus	Thymus
21	chr6:35695200-35696800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:35695200-35697400	Enhancers	Fetal Heart	heart
23	chr6:35695800-35697200	Enhancers	Aorta	Aorta
24	chr6:35695800-35698000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:35695800-35698000	Enhancers	Spleen	Spleen
26	chr6:35695800-35698600	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:35695800-35698600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:35695800-35698600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:35695800-35698800	Enhancers	Primary T cells from cord blood	blood
30	chr6:35695800-35698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:35695800-35699000	Enhancers	HMEC	breast
32	chr6:35696000-35696400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr6:35696000-35696400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:35696000-35696400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:35696000-35696400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:35696000-35696400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:35696000-35696400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr6:35696000-35696400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr6:35696000-35696400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:35696000-35696400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:35696000-35696400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:35696000-35696400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr6:35696000-35696400	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr6:35696000-35696400	Flanking Active TSS	Fetal Brain Male	brain
45	chr6:35696000-35696400	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr6:35696000-35696400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr6:35696000-35696400	Flanking Active TSS	Fetal Lung	lung
48	chr6:35696000-35696400	Flanking Active TSS	Placenta	Placenta
49	chr6:35696000-35696400	Flanking Active TSS	Fetal Stomach	stomach
50	chr6:35696000-35696400	Flanking Active TSS	Left Ventricle	heart

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