Variant report

Variant	rs638329
Chromosome Location	chr6:4134768-4134769
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	TBP	chr6:4134308-4134909	K562	blood:	n/a	n/a
2	TAF1	chr6:4134215-4134784	K562	blood:	n/a	n/a
3	SIN3A	chr6:4134395-4135873	H1-hESC	embryonic stem cell:	n/a	n/a
4	NRF1	chr6:4134729-4134798	GM12878	blood:	n/a	n/a
5	MYC	chr6:4134635-4135031	MCF10A-Er-Src	breast:	n/a	n/a
6	TAF1	chr6:4134467-4134796	K562	blood:	n/a	n/a
7	POLR2A	chr6:4134214-4135809	PBDE	blood:	n/a	n/a
8	BHLHE40	chr6:4134279-4134930	K562	blood:	n/a	n/a
9	BHLHE40	chr6:4134431-4135779	GM12878	blood:	n/a	n/a
10	MAX	chr6:4134254-4134851	K562	blood:	n/a	n/a
11	CTCF	chr6:4134640-4134790	HRE	kidney:	n/a	n/a
12	EGR1	chr6:4134482-4134880	K562	blood:	n/a	chr6:4134684-4134697 chr6:4134685-4134699 chr6:4134684-4134697 chr6:4134649-4134658 chr6:4134687-4134696
13	POLR2A	chr6:4134212-4135928	HepG2	liver:	n/a	n/a
14	CHD2	chr6:4134563-4134909	GM12878	blood:	n/a	n/a
15	MYC	chr6:4134405-4134896	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr6:4134655-4134981	HepG2	liver:	n/a	chr6:4134853-4134864 chr6:4134854-4134865
17	MAZ	chr6:4134257-4134886	K562	blood:	n/a	n/a
18	MYC	chr6:4134276-4136820	K562	blood:	n/a	chr6:4136289-4136298
19	POLR2A	chr6:4134509-4134777	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:4134405-4134852	Hela-S3	cervix:	n/a	n/a
21	RFX5	chr6:4134307-4135793	Hela-S3	cervix:	n/a	chr6:4135632-4135640
22	POLR2A	chr6:4134238-4135044	HepG2	liver:	n/a	n/a
23	MXI1	chr6:4134305-4135808	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:4134619-4134880	Hela-S3	cervix:	n/a	n/a
25	TBP	chr6:4134719-4135927	HepG2	liver:	n/a	n/a
26	TBL1XR1	chr6:4134263-4135720	K562	blood:	n/a	n/a
27	TEAD4	chr6:4134014-4135039	K562	blood:	n/a	n/a
28	CEBPB	chr6:4134675-4135037	HepG2	liver:	n/a	chr6:4134853-4134864 chr6:4134854-4134865
29	MYBL2	chr6:4134059-4134979	HepG2	liver:	n/a	n/a
30	UBTF	chr6:4134393-4134789	K562	blood:	n/a	n/a
31	POLR2A	chr6:4134256-4136602	Hela-S3	cervix:	n/a	n/a
32	MAFK	chr6:4134563-4134888	HepG2	liver:	n/a	n/a
33	HEY1	chr6:4134207-4134847	K562	blood:	n/a	n/a
34	CEBPB	chr6:4134619-4134978	Hela-S3	cervix:	n/a	chr6:4134853-4134864 chr6:4134854-4134865
35	CBX3	chr6:4134169-4134920	K562	blood:	n/a	chr6:4134467-4134478
36	MAX	chr6:4134470-4134802	GM12878	blood:	n/a	n/a
37	IRF1	chr6:4133973-4135818	K562	blood:	n/a	chr6:4135177-4135190 chr6:4134990-4135001 chr6:4135178-4135192 chr6:4134988-4135001 chr6:4135178-4135190 chr6:4135178-4135191 chr6:4135178-4135191 chr6:4135179-4135193 chr6:4135178-4135189 chr6:4134988-4135001 chr6:4135177-4135197 chr6:4135178-4135191 chr6:4135178-4135191 chr6:4134936-4134952
38	EGR1	chr6:4134479-4134821	K562	blood:	n/a	chr6:4134684-4134697 chr6:4134685-4134699 chr6:4134684-4134697 chr6:4134649-4134658 chr6:4134687-4134696
39	YY1	chr6:4134459-4134824	K562	blood:	n/a	chr6:4134732-4134748
40	ELK1	chr6:4134709-4134835	GM12878	blood:	n/a	n/a
41	HNF4A	chr6:4134658-4135020	HepG2	liver:	n/a	chr6:4134876-4134890 chr6:4134881-4134889 chr6:4134875-4134890
42	NFIC	chr6:4134261-4134925	HepG2	liver:	n/a	n/a
43	TBP	chr6:4134224-4135796	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr6:4134311-4134898	GM12878	blood:	n/a	n/a
45	UBTF	chr6:4134026-4135847	K562	blood:	n/a	n/a
46	MYC	chr6:4134597-4134831	MCF10A-Er-Src	breast:	n/a	n/a
47	HNF4G	chr6:4134118-4134962	HepG2	liver:	n/a	chr6:4134876-4134890 chr6:4134292-4134310 chr6:4134881-4134889 chr6:4134295-4134307 chr6:4134295-4134307 chr6:4134875-4134890
48	EP300	chr6:4134748-4135420	GM12878	blood:	n/a	chr6:4134991-4135005 chr6:4134851-4134865
49	MYC	chr6:4134097-4136687	K562	blood:	n/a	chr6:4136289-4136298
50	MAX	chr6:4134156-4134876	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4056059..4057941-chr6:4133460..4135296,2	K562	blood:
2	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
3	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-5	chr6:4131253-4134818	NONHSAT107321

Variant related genes	Relation type
ENSG00000254821	TF binding region
ECI2	TF binding region
ENSG00000234817	TF binding region
ENSG00000230648	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000272248	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs101418	0.80[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11755877	0.80[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1204951	0.84[ASN][1000 genomes]
rs13210282	0.83[ASW][hapmap];0.89[YRI][hapmap]
rs2326408	0.91[ASN][1000 genomes]
rs2745455	0.82[ASN][1000 genomes]
rs2783063	0.80[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs2783073	0.91[ASN][1000 genomes]
rs28878015	1.00[ASN][1000 genomes]
rs4959271	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs582008	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs583782	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs583881	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs584585	0.84[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs592953	0.80[CHB][hapmap]
rs593291	0.80[CHB][hapmap]
rs594662	0.80[CHB][hapmap]
rs595413	0.80[CHB][hapmap]
rs608195	0.80[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs611500	0.91[ASN][1000 genomes]
rs612022	0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs612477	0.86[ASN][1000 genomes]
rs613028	0.88[ASN][1000 genomes]
rs613260	0.91[ASN][1000 genomes]
rs613709	0.91[ASN][1000 genomes]
rs617604	0.82[ASN][1000 genomes]
rs617790	0.85[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs619439	0.85[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs619483	0.80[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs619873	0.91[ASN][1000 genomes]
rs620484	0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs621205	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs626080	0.85[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs627259	0.86[ASN][1000 genomes]
rs629362	0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs633290	0.85[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs634114	0.80[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs634698	0.89[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs634970	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs639905	0.80[CHB][hapmap]
rs643232	0.80[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs646385	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs648900	0.91[ASN][1000 genomes]
rs649725	0.85[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs659025	0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs659051	1.00[ASN][1000 genomes]
rs659305	0.85[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs660560	0.85[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs660957	1.00[ASN][1000 genomes]
rs661404	0.85[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs661657	0.84[ASN][1000 genomes]
rs662834	0.80[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs664299	0.89[ASN][1000 genomes]
rs664635	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs664898	1.00[ASN][1000 genomes]
rs665894	0.82[ASN][1000 genomes]
rs666254	0.80[CHB][hapmap]
rs668070	0.81[ASN][1000 genomes]
rs671364	0.80[CHB][hapmap]
rs674543	0.81[ASN][1000 genomes]
rs676683	0.85[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs678285	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs679303	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs688176	0.80[CHB][hapmap]
rs689308	0.91[ASN][1000 genomes]
rs694058	1.00[ASN][1000 genomes]
rs694903	0.86[ASN][1000 genomes]
rs707991	0.80[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs7166	0.91[ASN][1000 genomes]
rs7744628	0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs7757606	0.91[ASN][1000 genomes]
rs853416	0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs853417	0.91[ASN][1000 genomes]
rs853418	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs853422	0.83[ASW][hapmap];0.86[YRI][hapmap]
rs9328220	0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs9328222	0.85[YRI][hapmap]
rs9405219	0.84[ASN][1000 genomes]
rs9405701	1.00[ASN][1000 genomes]
rs942475	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs638329	HUS1B	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4133200-4134800	Flanking Active TSS	Liver	Liver
2	chr6:4133600-4134800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:4133600-4134800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr6:4133600-4134800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr6:4133800-4134800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:4133800-4134800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:4133800-4134800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:4133800-4134800	Flanking Active TSS	NHLF	lung
9	chr6:4133800-4135000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:4133800-4135000	Flanking Active TSS	HUVEC	blood vessel
11	chr6:4133800-4136800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:4133800-4136800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:4134000-4135000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:4134000-4135000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr6:4134000-4135000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr6:4134000-4135000	Flanking Active TSS	Dnd41	blood
17	chr6:4134000-4135000	Flanking Active TSS	NH-A	brain
18	chr6:4134000-4135200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:4134000-4135600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:4134000-4136800	Active TSS	Ovary	ovary
21	chr6:4134000-4136800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:4134200-4134800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:4134200-4134800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:4134200-4134800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:4134200-4134800	Enhancers	Primary B cells from cord blood	blood
26	chr6:4134200-4134800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:4134200-4134800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:4134200-4134800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:4134200-4134800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:4134200-4134800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:4134200-4134800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:4134200-4134800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr6:4134200-4134800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr6:4134200-4134800	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr6:4134200-4134800	Enhancers	Placenta	Placenta
36	chr6:4134200-4134800	Flanking Active TSS	Left Ventricle	heart
37	chr6:4134200-4134800	Flanking Active TSS	Psoas Muscle	Psoas
38	chr6:4134200-4134800	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr6:4134200-4134800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:4134200-4134800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:4134200-4134800	Flanking Active TSS	Thymus	Thymus
42	chr6:4134200-4134800	Flanking Active TSS	GM12878-XiMat	blood
43	chr6:4134200-4135000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:4134200-4135000	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:4134200-4135000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:4134200-4135000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr6:4134200-4135000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:4134200-4135000	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr6:4134200-4135000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr6:4134200-4135000	Flanking Active TSS	HMEC	breast

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