Variant report

Variant	rs199649718
Chromosome Location	chr11:73762170-73762171
allele	-/AAAAC
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	POLR2A	chr11:73762117-73762213	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73711424..73713992-chr11:73761628..73764111,2	K562	blood:
2	chr11:73675167..73677040-chr11:73761333..73763414,2	K562	blood:
3	chr11:73751293..73752862-chr11:73761257..73763074,2	MCF-7	breast:

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000255847	Chromatin interaction
ENSG00000187726	Chromatin interaction
ENSG00000175564	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv3485470	chr11:73761358-73762963	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3485473	chr11:73761638-73762453	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3485469	chr11:73761658-73762408	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3485474	chr11:73761662-73762383	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3462474	chr11:73761686-73762411	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3462496	chr11:73761689-73762397	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3485472	chr11:73761690-73762392	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3462485	chr11:73761743-73762327	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3485471	chr11:73761753-73762325	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3462508	chr11:73761757-73762323	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3485476	chr11:73761757-73762323	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3372844	chr11:73761855-73762450	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
3	chr11:73740000-73771000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:73745400-73764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:73746000-73768000	Weak transcription	NHEK	skin
6	chr11:73746400-73766000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:73747000-73767000	Weak transcription	HepG2	liver
8	chr11:73750800-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73750800-73800400	Weak transcription	HMEC	breast
10	chr11:73751000-73780200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73753000-73770400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:73753000-73781400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:73753200-73765200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:73753200-73766600	Weak transcription	NH-A	brain
15	chr11:73753200-73767200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:73753200-73768200	Weak transcription	K562	blood
17	chr11:73753200-73770800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:73753200-73770800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:73753200-73778200	Weak transcription	Pancreas	Pancrea
20	chr11:73753200-73781600	Weak transcription	Fetal Kidney	kidney
21	chr11:73753200-73782000	Weak transcription	Fetal Brain Male	brain
22	chr11:73753200-73783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:73753200-73783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
25	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
26	chr11:73753400-73781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:73753400-73784800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73753800-73767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:73753800-73768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:73756000-73762400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:73756000-73768800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:73756200-73762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:73756200-73766800	Strong transcription	HSMM	muscle
34	chr11:73756200-73768800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:73756400-73764800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:73756400-73768800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:73757000-73769000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:73757200-73762400	Strong transcription	Fetal Stomach	stomach
39	chr11:73757200-73769000	Strong transcription	Dnd41	blood
40	chr11:73757200-73769400	Strong transcription	Primary B cells from cord blood	blood
41	chr11:73757200-73770200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:73757400-73769000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:73758000-73764400	Strong transcription	Thymus	Thymus
44	chr11:73758200-73765000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:73758200-73765000	Strong transcription	Left Ventricle	heart
46	chr11:73758200-73771000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:73758400-73782800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:73758800-73779400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:73759000-73766400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:73759000-73766800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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