Variant report

Variant	rs35608037
Chromosome Location	chr3:23960001-23960002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:23959840-23960080	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:23958105-23960665	K562	blood:	n/a	n/a
3	POLR2A	chr3:23958098-23960725	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:23958121-23960749	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr3:23958042-23960224	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:23958118-23960215	GM12891	blood:	n/a	n/a
7	POLR2A	chr3:23959915-23960781	HCT-116	colon:	n/a	n/a
8	POLR2A	chr3:23958170-23960433	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr3:23958032-23960247	GM12891	blood:	n/a	n/a
10	POLR2A	chr3:23958128-23960836	K562	blood:	n/a	n/a
11	CHD1	chr3:23957214-23960192	IMR90	lung:	n/a	n/a
12	POLR2A	chr3:23957643-23960742	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:23957917-23960298	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr3:23958070-23960273	HepG2	liver:	n/a	n/a
15	POLR2A	chr3:23957917-23960748	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:23958045-23963842	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:23959418-23960170	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr3:23958006-23962277	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:23959981-23960646	PANC-1	pancreas:	n/a	n/a
20	SREBP1	chr3:23957585-23960048	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:23957976-23965870	K562	blood:	n/a	n/a
22	POLR2A	chr3:23958037-23960741	U87	brain:	n/a	n/a
23	POLR2A	chr3:23958124-23960193	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:23957870-23963941	H1-hESC	embryonic stem cell:	n/a	n/a
25	PBX3	chr3:23959923-23960077	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:23958125-23960796	K562	blood:	n/a	n/a
27	POLR2A	chr3:23958144-23960750	A549	lung:	n/a	n/a
28	POLR2A	chr3:23959894-23960100	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:23958063-23960804	GM12891	blood:	n/a	n/a
30	POLR2A	chr3:23957943-23960252	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr3:23957985-23960654	GM18505	blood:	n/a	n/a
32	POLR2A	chr3:23958082-23960833	K562	blood:	n/a	n/a
33	POLR2A	chr3:23959965-23960738	HUVEC	blood vessel:	n/a	n/a
34	TBL1XR1	chr3:23957940-23960071	K562	blood:	n/a	n/a
35	POLR2A	chr3:23958116-23960115	HL-60	blood:	n/a	n/a
36	POLR2A	chr3:23958113-23964020	GM12892	blood:	n/a	n/a
37	POLR2A	chr3:23958008-23960767	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr3:23957792-23960005	MCF-7	breast:	n/a	n/a
39	POLR2A	chr3:23958103-23960200	GM12891	blood:	n/a	n/a
40	POLR2A	chr3:23958064-23960550	GM19099	blood:	n/a	n/a
41	TRIM28	chr3:23958070-23960272	K562	blood:	n/a	n/a
42	HEY1	chr3:23958139-23960357	K562	blood:	n/a	chr3:23958483-23958498
43	CEBPB	chr3:23959953-23960255	K562	blood:	n/a	n/a
44	POLR2A	chr3:23958192-23960766	K562	blood:	n/a	n/a
45	POLR2A	chr3:23957083-23960668	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr3:23959438-23960250	HL-60	blood:	n/a	n/a
47	POLR2A	chr3:23958156-23960468	PBDE	blood:	n/a	n/a
48	POLR2A	chr3:23958127-23960266	GM12891	blood:	n/a	n/a
49	POLR2A	chr3:23958125-23960777	HepG2	liver:	n/a	n/a
50	POLR2A	chr3:23959835-23960145	Hela-S3	cervix:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
2	chr3:23958569..23960911-chr3:24534140..24537048,3	MCF-7	breast:
3	chr3:23850301..23853237-chr3:23957517..23960615,4	MCF-7	breast:
4	chr3:23742842..23745448-chr3:23959508..23961357,2	K562	blood:
5	chr17:58167241..58170093-chr3:23957521..23960210,2	MCF-7	breast:
6	chr3:23957476..23960072-chr3:25467685..25470119,2	K562	blood:
7	chr3:23958536..23961065-chr3:24535525..24538143,3	K562	blood:
8	chr3:23845393..23848355-chr3:23958587..23960710,4	K562	blood:
9	chr1:203059673..203062550-chr3:23957552..23960185,2	MCF-7	breast:
10	chr3:23852479..23855481-chr3:23956917..23960502,4	MCF-7	breast:
11	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
12	chr3:12873721..12876260-chr3:23958650..23961334,2	K562	blood:
13	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
14	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
15	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
16	chr3:23957572..23960051-chr3:23995970..23999234,5	MCF-7	breast:

No data

Variant related genes	Relation type
NKIRAS1	TF binding region
ENSG00000228791	Chromatin interaction
ENSG00000223791	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000170142	Chromatin interaction
ENSG00000272263	Chromatin interaction
ENSG00000261040	Chromatin interaction
ENSG00000163485	Chromatin interaction
ENSG00000077092	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000151090	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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv966996	chr3:23958991-23961257	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 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	chr3:23957000-23960400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:23957000-23960600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:23957000-23960600	Active TSS	Right Atrium	heart
4	chr3:23957200-23960200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:23957200-23960800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:23957400-23960800	Active TSS	Psoas Muscle	Psoas
7	chr3:23957400-23960800	Active TSS	Right Ventricle	heart
8	chr3:23957600-23960200	Active TSS	Fetal Intestine Small	intestine
9	chr3:23957600-23960800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:23957800-23960200	Active TSS	Esophagus	oesophagus
11	chr3:23957800-23960200	Active TSS	Lung	lung
12	chr3:23957800-23960200	Active TSS	Pancreas	Pancrea
13	chr3:23958200-23960600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:23958200-23960600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr3:23958400-23961200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:23958600-23960400	Transcr. at gene 5' and 3'	Thymus	Thymus
17	chr3:23958800-23960800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr3:23958800-23960800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
19	chr3:23958800-23960800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
20	chr3:23958800-23962000	Transcr. at gene 5' and 3'	A549	lung
21	chr3:23959000-23960600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
22	chr3:23959000-23962000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:23959200-23960400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
24	chr3:23959200-23960600	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr3:23959200-23960800	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr3:23959200-23961200	Transcr. at gene 5' and 3'	NHEK	skin
27	chr3:23959200-23961400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
28	chr3:23959200-23961800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:23959200-23961800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
30	chr3:23959200-23961800	Transcr. at gene 5' and 3'	K562	blood
31	chr3:23959200-23962000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
32	chr3:23959400-23960200	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:23959400-23960200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr3:23959400-23960200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
35	chr3:23959400-23960200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr3:23959400-23960400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:23959400-23960400	Transcr. at gene 5' and 3'	Fetal Lung	lung
38	chr3:23959400-23960400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
39	chr3:23959400-23960600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
40	chr3:23959400-23960600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
41	chr3:23959400-23960600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:23959400-23960600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:23959400-23960600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr3:23959400-23960600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
45	chr3:23959400-23960600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
46	chr3:23959400-23960600	Transcr. at gene 5' and 3'	NHLF	lung
47	chr3:23959400-23960800	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:23959400-23960800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr3:23959400-23960800	Transcr. at gene 5' and 3'	HMEC	breast
50	chr3:23959400-23960800	Transcr. at gene 5' and 3'	HSMM	muscle

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