Variant report

Variant	rs9368648
Chromosome Location	chr6:30923929-30923930
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	PML	chr6:30923046-30924081	GM12878	blood:	n/a	n/a
2	STAT5A	chr6:30923593-30923948	GM12878	blood:	n/a	n/a
3	E2F6	chr6:30923320-30923934	H1-hESC	embryonic stem cell:	n/a	chr6:30923591-30923601 chr6:30923588-30923598
4	TBL1XR1	chr6:30923087-30923950	GM12878	blood:	n/a	n/a
5	TEAD4	chr6:30923107-30924024	K562	blood:	n/a	n/a
6	JUN	chr6:30922409-30924003	K562	blood:	n/a	chr6:30922983-30922991 chr6:30922982-30922992 chr6:30922982-30922992 chr6:30922982-30922992 chr6:30922981-30922993
7	MTA3	chr6:30922886-30923945	GM12878	blood:	n/a	n/a
8	ZC3H11A	chr6:30923307-30923946	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30887442..30889637-chr6:30923511..30925995,2	K562	blood:
2	chr6:30899631..30901775-chr6:30921844..30924494,3	K562	blood:
3	chr6:30843517..30845376-chr6:30923433..30925062,2	K562	blood:
4	chr6:30923532..30925911-chr6:30926547..30929064,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SFTA2-3	chr6:30923724-30924009	l_3162_chr6:30913263-30924009_76bGuttman_hES

Variant related genes	Relation type
HCG21	TF binding region
ENSG00000252761	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000196260	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13212094	1.00[AFR][1000 genomes]
rs16897919	1.00[AFR][1000 genomes]
rs16897933	1.00[AFR][1000 genomes]
rs2286654	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3131921	0.83[ASN][1000 genomes]
rs3869091	0.89[EUR][1000 genomes]
rs4711248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711250	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4713378	1.00[AFR][1000 genomes]
rs9295936	0.97[ASN][1000 genomes]
rs9295937	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9348844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9366762	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9368645	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9368647	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9391637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9394024	1.00[AFR][1000 genomes]
rs9404935	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv462743	chr6:30905313-30957766	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv601483	chr6:30905313-30957766	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv462744	chr6:30920890-30955681	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv601484	chr6:30920890-30955681	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30922600-30924600	Bivalent Enhancer	HSMMtube	muscle
2	chr6:30922800-30924000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr6:30922800-30924000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:30922800-30924000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:30922800-30924200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr6:30922800-30924200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr6:30922800-30924400	Enhancers	Fetal Heart	heart
8	chr6:30922800-30924400	Enhancers	Lung	lung
9	chr6:30922800-30924400	Flanking Bivalent TSS/Enh	Dnd41	blood
10	chr6:30923000-30924000	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr6:30923000-30924000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:30923000-30924000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:30923000-30924000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:30923000-30924000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr6:30923000-30924000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
17	chr6:30923000-30924000	Active TSS	Fetal Kidney	kidney
18	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr6:30923000-30924000	Active TSS	Right Ventricle	heart
20	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Thymus	Thymus
21	chr6:30923000-30924000	Flanking Active TSS	K562	blood
22	chr6:30923000-30924000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr6:30923000-30924000	Bivalent/Poised TSS	NH-A	brain
24	chr6:30923000-30924200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:30923000-30924200	Enhancers	Small Intestine	intestine
26	chr6:30923200-30924000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:30923200-30924000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr6:30923200-30924000	Active TSS	Brain Substantia Nigra	brain
29	chr6:30923200-30924000	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr6:30923200-30924000	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr6:30923200-30924200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr6:30923400-30924000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:30923400-30924000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr6:30923400-30924000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:30923400-30924000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
36	chr6:30923400-30924000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:30923400-30924000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr6:30923600-30924000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr6:30923600-30924000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr6:30923600-30924000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:30923600-30924000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr6:30923600-30924000	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr6:30923600-30924000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr6:30923600-30924000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr6:30923600-30924000	Flanking Active TSS	Right Atrium	heart
46	chr6:30923600-30924000	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr6:30923600-30924000	Flanking Bivalent TSS/Enh	Osteobl	bone
48	chr6:30923600-30924200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr6:30923600-30924200	Flanking Active TSS	GM12878-XiMat	blood
50	chr6:30923600-30924600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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