Variant report

Variant	rs376702187
Chromosome Location	chr6:12008201-12008202
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	TCF7L2	chr6:12008006-12009276	HEK293	kidney:	n/a	chr6:12008919-12008933
2	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
4	POLR2A	chr6:12008070-12008464	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:12007820-12009828	K562	blood:	n/a	n/a
6	POLR2A	chr6:12007701-12009371	GM12891	blood:	n/a	n/a
7	JUN	chr6:12008032-12009732	K562	blood:	n/a	n/a
8	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:12007769-12009891	K562	blood:	n/a	n/a
10	ZNF143	chr6:12008165-12009236	K562	blood:	n/a	n/a
11	POLR2A	chr6:12007639-12012082	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:12007795-12008291	K562	blood:	n/a	n/a
13	POLR2A	chr6:12007582-12014072	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:12007665-12011477	GM12892	blood:	n/a	n/a
15	POLR2A	chr6:12007700-12012763	K562	blood:	n/a	n/a
16	ARID3A	chr6:12007786-12008220	HepG2	liver:	n/a	n/a
17	FOXA1	chr6:12007949-12008322	T-47D	breast:	n/a	n/a
18	EP300	chr6:12008176-12012345	K562	blood:	n/a	chr6:12009312-12009321 chr6:12012019-12012028 chr6:12009255-12009271 chr6:12011933-12011949 chr6:12011101-12011115 chr6:12010307-12010317 chr6:12009953-12009967
19	POLR2A	chr6:12007727-12013607	K562	blood:	n/a	n/a
20	NFATC1	chr6:12008074-12011865	GM12878	blood:	n/a	n/a
21	MYC	chr6:12008099-12012679	K562	blood:	n/a	chr6:12009161-12009170
22	POLR2A	chr6:12008106-12008339	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:12007806-12011601	GM12891	blood:	n/a	n/a
24	POLR2A	chr6:12007580-12016124	GM12878	blood:	n/a	n/a
25	ARID3A	chr6:12007783-12009305	K562	blood:	n/a	n/a
26	ZNF384	chr6:12008174-12009851	K562	blood:	n/a	n/a
27	POLR2A	chr6:12007705-12009372	GM12892	blood:	n/a	n/a
28	POLR2A	chr6:12007620-12009364	GM12891	blood:	n/a	n/a
29	CHD1	chr6:12008145-12015383	IMR90	lung:	n/a	chr6:12011541-12011551 chr6:12013007-12013017 chr6:12013336-12013346
30	UBTF	chr6:12007884-12013591	K562	blood:	n/a	n/a
31	GATA3	chr6:12007951-12008358	T-47D	breast:	n/a	n/a
32	TBP	chr6:12007749-12009849	K562	blood:	n/a	n/a
33	MXI1	chr6:12007801-12010187	SK-N-SH	brain:	n/a	n/a
34	TAL1	chr6:12008189-12009821	K562	blood:	n/a	n/a
35	POLR2A	chr6:12007635-12013762	K562	blood:	n/a	n/a
36	GATA3	chr6:12007923-12008324	T-47D	breast:	n/a	n/a
37	PML	chr6:12008131-12009604	K562	blood:	n/a	n/a
38	TEAD4	chr6:12008090-12009958	K562	blood:	n/a	n/a
39	IRF1	chr6:12008190-12011786	K562	blood:	n/a	chr6:12009956-12009970 chr6:12009959-12009970 chr6:12011616-12011630 chr6:12011619-12011630 chr6:12009958-12009972 chr6:12011445-12011452 chr6:12010217-12010227 chr6:12011546-12011560 chr6:12011345-12011356
40	POLR2A	chr6:12007804-12010285	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:12007733-12009305	GM12891	blood:	n/a	n/a
42	POLR2A	chr6:12007581-12012142	GM12892	blood:	n/a	n/a
43	UBTF	chr6:12008158-12009891	K562	blood:	n/a	n/a
44	MYC	chr6:12007786-12012740	K562	blood:	n/a	chr6:12009161-12009170
45	MYBL2	chr6:12008172-12009343	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:12008143-12014515	MCF10A-Er-Src	breast:	n/a	n/a
47	JUND	chr6:12007784-12009823	K562	blood:	n/a	n/a
48	MTA3	chr6:12007768-12009358	GM12878	blood:	n/a	n/a
49	CUX1	chr6:12008128-12009225	K562	blood:	n/a	n/a
50	GATA1	chr6:12008073-12009627	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
2	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP1-1	chr6:12008125-12008222	XLOC_005174
2	lnc-HIVEP1-1	chr6:12008196-12008222	XLOC_005174
3	lnc-HIVEP1-1	chr6:12008174-12008222	ENSG00000229896.1
4	lnc-C6orf105-5	chr6:12007817-12008266	NONHSAT107775
5	lnc-HIVEP1-1	chr6:12008103-12008222	ENSG00000229896.2

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000225102	Chromatin interaction
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv10446	chr6:12008060-12013799	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11999600-12008400	Weak transcription	Psoas Muscle	Psoas
2	chr6:12001600-12008400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:12001800-12008400	Weak transcription	Osteobl	bone
4	chr6:12002200-12008400	Weak transcription	Adipose Nuclei	Adipose
5	chr6:12002200-12008400	Weak transcription	Fetal Brain Female	brain
6	chr6:12007200-12008600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:12007400-12013400	Active TSS	K562	blood
8	chr6:12007600-12008400	Enhancers	Fetal Thymus	thymus
9	chr6:12007600-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:12007800-12008400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:12007800-12008400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:12007800-12008400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr6:12007800-12008400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:12007800-12008400	Flanking Active TSS	Fetal Kidney	kidney
15	chr6:12007800-12008400	Weak transcription	Lung	lung
16	chr6:12007800-12008400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:12007800-12008400	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:12007800-12008600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:12007800-12008600	Enhancers	Small Intestine	intestine
20	chr6:12007800-12008800	Flanking Active TSS	Hela-S3	cervix
21	chr6:12007800-12008800	Flanking Active TSS	NHEK	skin
22	chr6:12007800-12009800	Active TSS	Liver	Liver
23	chr6:12007800-12009800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:12007800-12009800	Bivalent/Poised TSS	HepG2	liver
25	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
26	chr6:12008000-12008400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:12008000-12008400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:12008000-12008400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr6:12008000-12008400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:12008000-12008400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:12008000-12008400	Enhancers	Stomach Smooth Muscle	stomach
32	chr6:12008000-12008400	Enhancers	Thymus	Thymus
33	chr6:12008000-12008400	Enhancers	NH-A	brain
34	chr6:12008000-12008600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr6:12008000-12008600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:12008000-12008600	Enhancers	Brain Germinal Matrix	brain
37	chr6:12008000-12008800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:12008000-12008800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:12008000-12009000	Active TSS	Fetal Brain Male	brain
40	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr6:12008200-12008400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:12008200-12008400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:12008200-12008400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:12008200-12008400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:12008200-12008400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:12008200-12008400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:12008200-12008400	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:12008200-12008400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr6:12008200-12008400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:12008200-12008400	Enhancers	Primary T helper cells fromperipheralblood	blood

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